Brachydactyly: Difference between revisions
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== Isolated Types == | == Isolated Types == | ||
Brachydactyly is a congenital anomaly that can present as an isolated malformation or as part of a complex malformation syndrome. Isolated brachydactyly may have accompanying subtle changes in other areas of the body. This anomaly may also be associated with other hand malformations, including syndactyly, polydactyly, reduction defects, and symphalangism. | |||
{| class="wikitable" | |||
|+Types of isolated brachydactyly (Temtamy and McKusick after Bell)<ref name=":0" /> | |||
!Name | |||
!Synonyms | |||
!OMIM | |||
|- | |||
|'''Brachydactyly type A''' | |||
| | |||
| | |||
|- | |||
|Brachydactyly type A1 (BDA1) | |||
|Farabee type brachydactyly | |||
|112500 | |||
|- | |||
|Brachydactyly type A2 (BDA2) | |||
|Mohr-Wriedt type brachydactyly | |||
|112600 | |||
|- | |||
|Brachydactyly type A3 (BDA3) | |||
|Brachymesophalangy V, Brachydactyly-Clinodactyly | |||
|112700 | |||
|- | |||
|Brachydactyly type A4 (BDA4) | |||
|Brachymesophalangy II and V, Temtamy type brachydactyly | |||
|112800 | |||
|- | |||
|Brachydactyly type A5 (BDA5) | |||
|Absent middle phalanges of digits 2–5 with nail dysplasia | |||
|112900 | |||
|- | |||
|'''Brachydactyly type B (BDB)''' | |||
| | |||
|'''113000''' | |||
|- | |||
|'''Brachydactyly type C (BDC)''' | |||
|'''Brachydactyly with hyperphalangism, Haws type brachydactyly''' | |||
|'''113100''' | |||
|- | |||
|'''Brachydactyly type D (BDD)''' | |||
|'''Stub thumb''' | |||
|'''113200''' | |||
|- | |||
|'''Brachydactyly type E (BDE)''' | |||
| | |||
|'''113300''' | |||
|- | |||
|'''Brachymetatarsus IV''' | |||
|'''Metatarsus IV, short, Toes, fourth, short''' | |||
|'''113475''' | |||
|- | |||
|'''Sugarman brachydactyly''' | |||
|'''Brachydactyly with major proximal phalangeal shortening''' | |||
|'''272150''' | |||
|- | |||
|'''Kirner deformity''' | |||
|'''Dystelephalangy''' | |||
|'''128000''' | |||
|} | |||
== Syndromic Causes == | == Syndromic Causes == | ||
{| class="wikitable" | {| class="wikitable" | ||
|+'''Manifestations in some selected syndromes with associated brachydactyly.''' <ref>{{Cite journal|last=Temtamy|first=Samia A.|last2=Aglan|first2=Mona S.|date=2008-06-13|title=Brachydactyly|url=https://pubmed.ncbi.nlm.nih.gov/18554391|journal=Orphanet Journal of Rare Diseases|volume=3|pages=15|doi=10.1186/1750-1172-3-15|issn=1750-1172|pmc=2441618|pmid=18554391}}</ref> See [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2441618/table/T1/ original table] for references. | |+'''Manifestations in some selected syndromes with associated brachydactyly.''' <ref name=":0">{{Cite journal|last=Temtamy|first=Samia A.|last2=Aglan|first2=Mona S.|date=2008-06-13|title=Brachydactyly|url=https://pubmed.ncbi.nlm.nih.gov/18554391|journal=Orphanet Journal of Rare Diseases|volume=3|pages=15|doi=10.1186/1750-1172-3-15|issn=1750-1172|pmc=2441618|pmid=18554391}}</ref> See [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2441618/table/T1/ original table] for references. | ||
!'''Syndrome & Synonyms''' | !'''Syndrome & Synonyms''' | ||
!'''Digital phenotype''' | !'''Digital phenotype''' | ||
Line 33: | Line 92: | ||
|- | |- | ||
| | | | ||
'''Thumbs, stiff with brachydactyly type A1 and developmental delay''' | |||
|Resembles type A1 brachydactyly | |Resembles type A1 brachydactyly | ||
Line 48: | Line 107: | ||
|- | |- | ||
| | | | ||
'''Brachydactyly type A2 with microcephaly''' | |||
|Resembles type A2 brachydactyly | |Resembles type A2 brachydactyly | ||
|Microcephaly | |Microcephaly | ||
Seizure disorder with | Seizure disorder with generalized spike-wave discharges by EEG | ||
generalized spike-wave | |||
discharges by EEG | |||
Diabetes mellitus | Diabetes mellitus | ||
|211369, | |211369, | ||
Line 67: | Line 121: | ||
|- | |- | ||
| | | | ||
'''Microcephaly and digital anomalies with normal intelligence''' | |||
|Brachydactyly with radial | |Brachydactyly with radial clinodactyly of 4<sup>th</sup> & 5<sup>th</sup> digits and ulnar clinodactyly of 2<sup>nd</sup> digits. Increased space between 2<sup>nd</sup> & 3<sup>rd</sup> digits, an abnormal palmar crease (Sydney line), short toes with syndactyly between 4<sup>th</sup> & 5<sup>th</sup> toes | ||
clinodactyly of 4<sup>th</sup> & 5<sup>th</sup> digits and | |||
ulnar clinodactyly of 2<sup>nd</sup> | |||
|Microcephaly | |Microcephaly | ||
Line 84: | Line 133: | ||
|- | |- | ||
| | | | ||
'''Brachydactyly type A 6''' | |||
(BDA6) (''BRACHYMESOPHALANGY WITH MESOMELIC SHORT LIMBS AND CARPAL AND TARSAL OSSEOUS ABNORMALITIES, OSEBOLD-REMONDINI SYNDROME'') | |||
|Hypoplastic or absent middle phalanges of hands & feet | |||
Radial deviation of index fingers | Radial deviation of index fingers | ||
|Short stature | |Short stature | ||
Line 100: | Line 145: | ||
Delayed coalescence of | Delayed coalescence of | ||
bipartite calcanei | bipartite calcanei (in younger members). | ||
(in younger members). | |||
Hamate and capitate fusion | Hamate and capitate fusion | ||
Line 111: | Line 154: | ||
|- | |- | ||
| | | | ||
'''Robinow syndrome''' | |||
|Type D brachydactyly with short metacarpals (Figs. 4C,D & 5A) | |Type D brachydactyly with short metacarpals (Figs. 4C,D & 5A) | ||
|Short stature | |Short stature | ||
Line 121: | Line 164: | ||
Umbilical hernia | Umbilical hernia | ||
Characteristic fetal face | Characteristic fetal face (Fig. 4A) | ||
(Fig. 4A) | |||
Hypogenitalism (Fig. 4B) | Hypogenitalism (Fig. 4B) | ||
Gingival hypertrophy | Gingival hypertrophy (Fig. 5B) | ||
(Fig. 5B) | |||
Multiple ribs, vertebral anomalies, hemivertebrae & scoliosis more in common in AR type (Fig. 5C) | |||
|180700, AD | |180700, AD | ||
Line 150: | Line 185: | ||
Ali ''et al.'' [12] | Ali ''et al.'' [12] | ||
|- | |- | ||
| | | | ||
'''Coloboma of macula with''' '''type B brachydactyly''' | |||
'''type B brachydactyly''' | |||
(syn: ''APICAL DYSTROPHY, SORSBY SYNDROME'') | (syn: ''APICAL DYSTROPHY, SORSBY SYNDROME'') | ||
|Type B brachydactyly | |Type B brachydactyly | ||
|Bilateral pigmented macular | |Bilateral pigmented macular coloboma | ||
Absent kidney (unilateral or bilateral) | Absent kidney (unilateral or bilateral) | ||
Sensorineural hearing loss | Sensorineural hearing loss | ||
|120400, AD | |120400, AD | ||
Line 175: | Line 206: | ||
|- | |- | ||
| | | | ||
'''Temtamy syndrome of craniofacial dysmorphism, ocular coloboma,''' '''absent corpus callosum & aortic dilatation''' | |||
|Brachydactyly of hands and feet mainly of metacarpals 3-5 | |||
'''absent corpus callosum & aortic dilatation''' | |||
|Brachydactyly of hands and | |||
mainly of metacarpals 3-5 | |||
|Mental retardation | |Mental retardation | ||
Line 202: | Line 225: | ||
Craniofacial dysmorphism | Craniofacial dysmorphism | ||
|218340, AR | |218340, AR | ||
Line 215: | Line 237: | ||
Li et al. [20] | Li et al. [20] | ||
|- | |- | ||
| | | | ||
'''Brachydactyly,''' '''coloboma & anterior''' '''segment dysgenesis''' | |||
'''coloboma & anterior''' | |||
'''segment dysgenesis''' | |||
|Short digits and clinodactyly | |Short digits and clinodactyly | ||
|Anterior segment dysgenesis | |Anterior segment dysgenesis | ||
Line 233: | Line 251: | ||
Short stature | Short stature | ||
|610023, AD, | |610023, AD, | ||
Line 243: | Line 260: | ||
|- | |- | ||
| | | | ||
'''Hirschsprung disease''' '''with type D brachydactyly''' | |||
| Absence or short distal phalanx & nails of thumbs & great toes | |||
'''with type D brachydactyly''' | |||
|Absence or short distal | |||
nails of thumbs & great toes | |||
|Hirschsprung disease | | Hirschsprung disease | ||
|306980, X-linked | |306980, X-linked | ||
|Reynolds ''et al.'' [22] | |Reynolds ''et al.'' [22] | ||
|- | |- | ||
| | | | ||
'''Rubinstein-Taybi''' '''Syndrome''' | |||
'''Syndrome''' | |||
(syn: ''RSTS, BROAD-THUMB HALLUX SYNDROME'') | |||
|Broad thumbs & big toes (Fig. 6B, C, D) | |||
| Characteristic facies with long nose & antimongoloid slanting of eyes (Fig. 6A) | |||
Cardiac anomalies | Cardiac anomalies | ||
Dental anomalies | Dental anomalies | ||
Slipped capital femoral | Slipped capital femoral epiphysis | ||
epiphysis | |||
Mental retardation | Mental retardation | ||
Line 288: | Line 293: | ||
[25] | [25] | ||
|- | |- | ||
| | | | ||
'''Albright hereditary osteodystrophy''' | |||
(syn: ''AHO,PSEUDOHYPOPARATHYROIDISM, PHP, pseudo-pseudohypoparathyroidism,PPHP'') | (syn: ''AHO,PSEUDOHYPOPARATHYROIDISM, PHP, pseudo-pseudohypoparathyroidism,PPHP'') | ||
|Type E brachydactyly | |Type E brachydactyly (Typically, shortening of III, IV, | ||
(Typically, shortening of III, IV, | |||
V metacarpals and I distal phalanx) | |||
|Resistance to multiple hormones that work via cAMP | |||
Short stature | Short stature | ||
Line 311: | Line 307: | ||
Subcutaneous ossifications | Subcutaneous ossifications | ||
Pseudohypoparathyroidism | Pseudohypoparathyroidism | ||
Hypocalcemia & elevated | Hypocalcemia & elevated PTH levels | ||
Patients with PPHP have normal Ca & PTH levels | |||
|103580, AD | |103580, AD | ||
Line 330: | Line 321: | ||
|- | |- | ||
| | | | ||
'''Brachydactyly-Mental Retardation syndrome''' | |||
(syn: ''BDMR - ALBRIGHT HEREDITARY OSTEODYSTROPHY-LIKE SYNDROME - ALBRIGHT HEREDITARY OSTEODYSTROPHY 3; AHO3'') | |||
|Type E brachydactyly | |Type E brachydactyly | ||
|Short stature | |Short stature | ||
Line 340: | Line 333: | ||
Eczema | Eczema | ||
Normal PTH and Ca | Normal PTH and Ca metabolism | ||
metabolism | |||
Normal levels of Gs-alpha and de novo deletions of 2q37 | |||
|600430, sporadic | |600430, sporadic | ||
|Wilson ''et al.'' [29] | | Wilson ''et al.'' [29] | ||
Shrimpton ''et al.'' [30] | Shrimpton ''et al.'' [30] | ||
|- | |- | ||
| | |'''Brachydactyly type E with hypertension''' | ||
(syn: ''HTNB, BRACHYDACTYLY WITH HYPERTENSION, BRACHYDACTYLY, TYPE E, WITH SHORT STATURE AND HYPERTENSION, BILGINTURAN SYNDROME'') | |||
|Type E brachydactyly | |Type E brachydactyly | ||
|Essential hypertension, | | Essential hypertension, | ||
improved blood pressure | Diminished baroreflex sensitivity with markedly improved blood pressure | ||
buffering, | buffering, | ||
Loops in the posterior/ | Loops in the posterior/inferior cerebellar artery by MRI angiography of posterior fossa, | ||
inferior cerebellar artery | |||
MRI angiography of posterior fossa, | |||
ophthalmologic findings of prolonged hypertension, | No significant ophthalmologic findings of prolonged hypertension, | ||
Hypertension is medically | Hypertension is medically responsive. | ||
|112410, AD | |112410, AD | ||
|Bilginturan ''et al.'' [31] | |Bilginturan ''et al.'' [31] | ||
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|- | |- | ||
| | | | ||
'''Brachydactyly,''' '''long-thumb type''' | |||
|Symmetric brachydactyly and relatively long thumbs. Tip of thumb extended distal to the proximal interphalangeal joint of index finger when digits are | |||
'''long-thumb type''' | |||
|Symmetric brachydactyly and | |||
relatively long thumbs. Tip | |||
thumb extended distal to the | |||
proximal interphalangeal joint of | |||
index finger when digits are | |||
opposed. | opposed. | ||
|Skeletal & joint anomalies | |||
|Skeletal & joint | |||
Cardiac conduction defects | Cardiac conduction defects | ||
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|- | |- | ||
| | | | ||
'''Digital arthropathy-brachydactyly, familial''' | |||
(syn: ''FDAB'') | |||
|Progressive brachydactyly of middle & distal phalanges of hands & feet with onset in the first decade of life. | |||
|Progressive arthropathy of the interphalangeal, metacarpophalangeal & metatarsophalangeal joints | |||
Proximal articular surfaces become flattened & deformed | |||
hands than feet | Changes are more marked in hands than feet | ||
Presumably subchondral | Presumably subchondral pathology primarily affects heads of phalanges, | ||
pathology primarily affects | |||
heads of phalanges, | |||
metacarpals & metatarsals | metacarpals & metatarsals | ||
|606835, AD | | 606835, AD | ||
|Amor ''et al.'' [43] | |Amor ''et al.'' [43] | ||
|- | |- | ||
| | | | ||
'''Ulnar/fibular ray defect and brachydactyly''' | |||
|Brachydactyly of digits | |Brachydactyly of digits | ||
|Ulnar/fibular hypoplasia | |Ulnar/fibular hypoplasia | ||
Line 475: | Line 430: | ||
|- | |- | ||
| | | | ||
'''Fibular hypoplasia and complex brachydactyly''' | |||
''GREBE SYNDROME, MESOMELIA-TYPE HUNTER-THOMPSON'') | (syn: ''du Pan SYNDROME,'' ''GREBE SYNDROME, MESOMELIA-TYPE HUNTER-THOMPSON'') | ||
|Complex type of brachydactyly: | |Complex type of brachydactyly: | ||
Short various metacarpals, | Short various metacarpals, small carpals, trapezoid middle phalanx of index finger with radial deviation | ||
Short laterally deviated hypoplastic toes (ball-like) | |||
Short laterally deviated | |||
hypoplastic toes (ball-like) | |||
(Figs. 7 & 8) | (Figs. 7 & 8) | ||
|Bilateral absence of fibula | |Bilateral absence of fibula (Fig. 8A) | ||
(Fig. 8A) | |||
Tibiotarsal dislocation | Tibiotarsal dislocation | ||
Line 498: | Line 446: | ||
Short limbs | Short limbs | ||
|228900, AR | | 228900, AR | ||
|Martin du Pan [45] | | Martin du Pan [45] | ||
Grebe [46] | Grebe [46] | ||
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|- | |- | ||
| | | | ||
'''Brachydactyly-Mononen type ''' | |||
(syn: ''THUMBS AND GREAT TOES, SHORT AND ABDUCTED'') | |||
|Preaxial brachydactyly & abducted thumbs & big toes | |Preaxial brachydactyly & abducted thumbs & big toes | ||
X-ray hands & feet show short 1<sup>st</sup> metacarpals & 1<sup>st</sup> metatarsals & | X-ray hands & feet show short 1<sup>st</sup> metacarpals & 1<sup>st</sup> metatarsals & absent distal phalanges of index fingers & 2<sup>nd</sup> toes | ||
absent distal phalanges of index fingers & 2<sup>nd</sup> toes | |||
Coalescence of carpal & tarsal bones | Coalescence of carpal & tarsal bones | ||
Line 534: | Line 482: | ||
|Mononen ''et al.'' [52] | |Mononen ''et al.'' [52] | ||
|- | |- | ||
| | |'''Brachydactyly, preaxial, with hallux varus and thumb abduction''' | ||
Short metacarpals, | (syn: ''CHRISTIAN BRACHYDACTYLY'') | ||
|Short abducted thumbs & big toes | |||
distal phalanges | Short metacarpals, metatarsals & distal phalanges | ||
|Mental retardation | |Mental retardation | ||
|112450, AD | |112450, AD | ||
|Christian ''et al.'' [53] | |Christian ''et al.'' [53] | ||
|- | |- | ||
| | |'''Temtamy preaxial brachydactyly syndrome''' | ||
|Bilateral symmetrical preaxial brachydactyly and | (syn: ''PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE'') | ||
| Bilateral symmetrical preaxial brachydactyly and | |||
Hyperphalangism of digits 1-3 | Hyperphalangism of digits 1-3 | ||
Line 568: | Line 515: | ||
Cleft palate | Cleft palate | ||
|605282, AR | |605282, AR | ||
|Temtamy ''et al.'' [54] | | Temtamy ''et al.'' [54] | ||
Clarkson ''et al.'' [55] | Clarkson ''et al.'' [55] | ||
Line 579: | Line 526: | ||
|} | |} | ||
== Resources == | == Other Causes == | ||
* Pseudohypoparathyroidism (PHP) | |||
* Pseudopseudohypoparathyroidism (PPHP) | |||
* Acrodysostosis | |||
==Resources== | |||
{{PDF|Brachyactyly - Temtamy 2008.pdf}} | {{PDF|Brachyactyly - Temtamy 2008.pdf}} | ||
== References == | ==References== | ||
[[Category:Hand and Wrist Conditions]] | [[Category:Hand and Wrist Conditions]] | ||
<references /> | |||
[[Category:Genetic Disorders]] |
Latest revision as of 18:33, 12 March 2023
Isolated Types
Brachydactyly is a congenital anomaly that can present as an isolated malformation or as part of a complex malformation syndrome. Isolated brachydactyly may have accompanying subtle changes in other areas of the body. This anomaly may also be associated with other hand malformations, including syndactyly, polydactyly, reduction defects, and symphalangism.
Name | Synonyms | OMIM |
---|---|---|
Brachydactyly type A | ||
Brachydactyly type A1 (BDA1) | Farabee type brachydactyly | 112500 |
Brachydactyly type A2 (BDA2) | Mohr-Wriedt type brachydactyly | 112600 |
Brachydactyly type A3 (BDA3) | Brachymesophalangy V, Brachydactyly-Clinodactyly | 112700 |
Brachydactyly type A4 (BDA4) | Brachymesophalangy II and V, Temtamy type brachydactyly | 112800 |
Brachydactyly type A5 (BDA5) | Absent middle phalanges of digits 2–5 with nail dysplasia | 112900 |
Brachydactyly type B (BDB) | 113000 | |
Brachydactyly type C (BDC) | Brachydactyly with hyperphalangism, Haws type brachydactyly | 113100 |
Brachydactyly type D (BDD) | Stub thumb | 113200 |
Brachydactyly type E (BDE) | 113300 | |
Brachymetatarsus IV | Metatarsus IV, short, Toes, fourth, short | 113475 |
Sugarman brachydactyly | Brachydactyly with major proximal phalangeal shortening | 272150 |
Kirner deformity | Dystelephalangy | 128000 |
Syndromic Causes
Syndrome & Synonyms | Digital phenotype | Associated anomalies | OMIM &
Inheritance |
References |
---|---|---|---|---|
Brachydactyly-distal symphalangism syndrome | Resembles type A1 brachydactyly
with associated symphalangism. Distal phalanx with the shape of a chess pawn
|
Scoliosis
Club foot Tall stature |
113450,
Autosomal dominant (AD) |
Sillence [1] |
Thumbs, stiff with brachydactyly type A1 and developmental delay |
Resembles type A1 brachydactyly
With stiff thumbs |
Mental retardation | 188201,
Dominant mutation (DM) |
Piussan et al. [2]
Barber et al. [3] |
Brachydactyly type A2 with microcephaly |
Resembles type A2 brachydactyly | Microcephaly
Seizure disorder with generalized spike-wave discharges by EEG Diabetes mellitus |
211369,
Autosomal recessive (AR) |
Graham [4] |
Microcephaly and digital anomalies with normal intelligence |
Brachydactyly with radial clinodactyly of 4th & 5th digits and ulnar clinodactyly of 2nd digits. Increased space between 2nd & 3rd digits, an abnormal palmar crease (Sydney line), short toes with syndactyly between 4th & 5th toes | Microcephaly
Chronic nephritis |
602585, AD | Kawame et al. [5]
Teszas et al. [6] |
Brachydactyly type A 6 (BDA6) (BRACHYMESOPHALANGY WITH MESOMELIC SHORT LIMBS AND CARPAL AND TARSAL OSSEOUS ABNORMALITIES, OSEBOLD-REMONDINI SYNDROME) |
Hypoplastic or absent middle phalanges of hands & feet
Radial deviation of index fingers |
Short stature
Mesomelic dwarfism Delayed coalescence of bipartite calcanei (in younger members). Hamate and capitate fusion Normal intelligence |
112910, AD | Osebold et al. [7] |
Robinow syndrome |
Type D brachydactyly with short metacarpals (Figs. 4C,D & 5A) | Short stature
Mesomelic dwarfism (Fig. 5A) Supernumerary teeth Umbilical hernia Characteristic fetal face (Fig. 4A) Hypogenitalism (Fig. 4B) Gingival hypertrophy (Fig. 5B) Multiple ribs, vertebral anomalies, hemivertebrae & scoliosis more in common in AR type (Fig. 5C) |
180700, AD
268310, AR |
Temtamy et al. [8]
Mazzeu et al. [9] Meguid & Aglan [10] Stickler et al. [11] Ali et al. [12] |
Coloboma of macula with type B brachydactyly (syn: APICAL DYSTROPHY, SORSBY SYNDROME) |
Type B brachydactyly | Bilateral pigmented macular coloboma
Absent kidney (unilateral or bilateral) Sensorineural hearing loss |
120400, AD | Sorsby [13]
Thompson & Baraitser [14] Bacchelli et al. [15] |
Temtamy syndrome of craniofacial dysmorphism, ocular coloboma, absent corpus callosum & aortic dilatation |
Brachydactyly of hands and feet mainly of metacarpals 3-5 | Mental retardation
Club feet Agenesis of corpus callosum Cerebral ventricular enlargement Eye colobomas Genu vara Aortic dilatation Craniofacial dysmorphism |
218340, AR | Temtamy et al. [16]
Chan et al. [17] Ramocki et al. [18] Talisetti et al. [19] Li et al. [20] |
Brachydactyly, coloboma & anterior segment dysgenesis |
Short digits and clinodactyly | Anterior segment dysgenesis
Ocular coloboma Mild learning disability Mild hearing impairment Cleft palate Short stature |
610023, AD,
X-linked can not be excluded |
Quinn et al. [21] |
Hirschsprung disease with type D brachydactyly |
Absence or short distal phalanx & nails of thumbs & great toes | Hirschsprung disease | 306980, X-linked | Reynolds et al. [22] |
Rubinstein-Taybi Syndrome (syn: RSTS, BROAD-THUMB HALLUX SYNDROME) |
Broad thumbs & big toes (Fig. 6B, C, D) | Characteristic facies with long nose & antimongoloid slanting of eyes (Fig. 6A)
Cardiac anomalies Dental anomalies Slipped capital femoral epiphysis Mental retardation |
180849, DM | Rubinstein and Taybi
[23] Bloch-Zupan et al. [24] Roelfsema & Peters [25] |
Albright hereditary osteodystrophy (syn: AHO,PSEUDOHYPOPARATHYROIDISM, PHP, pseudo-pseudohypoparathyroidism,PPHP) |
Type E brachydactyly (Typically, shortening of III, IV,
V metacarpals and I distal phalanx) |
Resistance to multiple hormones that work via cAMP
Short stature Obesity & round facies Subcutaneous ossifications Pseudohypoparathyroidism Hypocalcemia & elevated PTH levels Patients with PPHP have normal Ca & PTH levels |
103580, AD | Davies & Hughes [26]
Wilson et al. [27] Mouallem et al. [28] |
Brachydactyly-Mental Retardation syndrome (syn: BDMR - ALBRIGHT HEREDITARY OSTEODYSTROPHY-LIKE SYNDROME - ALBRIGHT HEREDITARY OSTEODYSTROPHY 3; AHO3) |
Type E brachydactyly | Short stature
Stocky build Mental retardation Eczema Normal PTH and Ca metabolism Normal levels of Gs-alpha and de novo deletions of 2q37 |
600430, sporadic | Wilson et al. [29]
Shrimpton et al. [30] |
Brachydactyly type E with hypertension
(syn: HTNB, BRACHYDACTYLY WITH HYPERTENSION, BRACHYDACTYLY, TYPE E, WITH SHORT STATURE AND HYPERTENSION, BILGINTURAN SYNDROME) |
Type E brachydactyly | Essential hypertension,
Diminished baroreflex sensitivity with markedly improved blood pressure buffering, Loops in the posterior/inferior cerebellar artery by MRI angiography of posterior fossa, No significant ophthalmologic findings of prolonged hypertension, Hypertension is medically responsive. |
112410, AD | Bilginturan et al. [31]
Luft et al. [32] Schuster et al. [33] Bahring et al. [34] Nagai et al. [35] Bahring et al. [36] Chitayat et al. [37] Toka et al. [38] Hattenbach et al. [39] Schuster et al. [40] Gong et al. [41] |
Brachydactyly, long-thumb type |
Symmetric brachydactyly and relatively long thumbs. Tip of thumb extended distal to the proximal interphalangeal joint of index finger when digits are
opposed. |
Skeletal & joint anomalies
Cardiac conduction defects |
112430, AD | Hollister and Hollister
[42] |
Digital arthropathy-brachydactyly, familial (syn: FDAB) |
Progressive brachydactyly of middle & distal phalanges of hands & feet with onset in the first decade of life. | Progressive arthropathy of the interphalangeal, metacarpophalangeal & metatarsophalangeal joints
Proximal articular surfaces become flattened & deformed Changes are more marked in hands than feet Presumably subchondral pathology primarily affects heads of phalanges, metacarpals & metatarsals |
606835, AD | Amor et al. [43] |
Ulnar/fibular ray defect and brachydactyly |
Brachydactyly of digits | Ulnar/fibular hypoplasia
Ulnar ray defects Midface hypoplasia Atrial septal defects & hemangioma Normal mammary tissue & Sweating Short stature |
608571, AD | Morava et al. [44] |
Fibular hypoplasia and complex brachydactyly (syn: du Pan SYNDROME, GREBE SYNDROME, MESOMELIA-TYPE HUNTER-THOMPSON) |
Complex type of brachydactyly:
Short various metacarpals, small carpals, trapezoid middle phalanx of index finger with radial deviation Short laterally deviated hypoplastic toes (ball-like) (Figs. 7 & 8) |
Bilateral absence of fibula (Fig. 8A)
Tibiotarsal dislocation (Volkmann deformity) Short limbs |
228900, AR | Martin du Pan [45]
Grebe [46] Temtamy & McKusick [47] Kohn et al. [48] Szczaluba et al. [49] Ahmad et al. [50] Faiyaz-Ul-Haque et al. [51] |
Brachydactyly-Mononen type (syn: THUMBS AND GREAT TOES, SHORT AND ABDUCTED) |
Preaxial brachydactyly & abducted thumbs & big toes
X-ray hands & feet show short 1st metacarpals & 1st metatarsals & absent distal phalanges of index fingers & 2nd toes Coalescence of carpal & tarsal bones |
Mild short stature
Bow legs with proximal overgrowth of fibula |
301940,
X-linked dominant (XLD) |
Mononen et al. [52] |
Brachydactyly, preaxial, with hallux varus and thumb abduction
(syn: CHRISTIAN BRACHYDACTYLY) |
Short abducted thumbs & big toes
Short metacarpals, metatarsals & distal phalanges |
Mental retardation | 112450, AD | Christian et al. [53] |
Temtamy preaxial brachydactyly syndrome
(syn: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE) |
Bilateral symmetrical preaxial brachydactyly and
Hyperphalangism of digits 1-3 Ulnar deviation of 5th fingers & accessory ossicles of digits 2-5 & abnormal phalanges of thumbs (Fig. 9) |
Mental retardation
Growth retardation Sensorineural deafness Rounded facies (Fig, 9A) Micrognathia Talon cusps of upper central incisors Cleft palate |
605282, AR | Temtamy et al. [54]
Clarkson et al. [55] Temtamy [56] Temtamy et al. [unpublished observations] |
Other Causes
- Pseudohypoparathyroidism (PHP)
- Pseudopseudohypoparathyroidism (PPHP)
- Acrodysostosis