Brachydactyly: Difference between revisions
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== Isolated Types == | |||
== Syndromic Causes == | |||
{| 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. | |||
!'''Syndrome & Synonyms''' | |||
!'''Digital phenotype''' | |||
!'''Associated anomalies''' | |||
!'''OMIM &''' | |||
'''Inheritance''' | |||
!'''References''' | |||
|- | |||
|'''Brachydactyly-distal symphalangism syndrome''' | |||
|Resembles type A1 brachydactyly | |||
with associatedĀ symphalangism. | |||
Distal phalanx with theĀ shape of a chess pawn | |||
|Scoliosis | |||
Club foot | |||
Tall stature | |||
|113450, | |||
Autosomal dominant (AD) | |||
|Sillence [1] | |||
|- | |||
| | |||
# '''Thumbs,Ā Ā Ā stiff with brachydactyly type A1 and developmental delay''' | |||
|Resembles type A1Ā 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] | |||
|- | |||
| | |||
# '''MicrocephalyĀ Ā Ā and digital anomalies with normal intelligence'''Ā | |||
|Brachydactyly with radial | |||
clinodactyly of 4<sup>th</sup>Ā & 5<sup>th</sup> digits and | |||
ulnar clinodactyly of 2<sup>nd</sup>Ā digits. Increased space between 2<sup>nd</sup> & 3<sup>rd</sup> digits,Ā an abnormal palmar crease (Sydney line), short toes with syndactyly between 4<sup>th</sup>Ā & 5<sup>th</sup> toes | |||
|Microcephaly | |||
Chronic nephritis | |||
|602585, AD | |||
|Kawame ''et al.'' [5] | |||
Teszas ''et al.'' [6] | |||
|- | |||
| | |||
# '''Brachydactyly type A 6''' | |||
==== (BDA6) (''BRACHYMESOPHALANGY WITH MESOMELIC SHORT LIMBSĀ AND CARPAL AND TARSAL OSSEOUS ABNORMALITIES, OSEBOLD-REMONDINI SYNDROME'') ==== | |||
|Hypoplastic or absent middleĀ | |||
phalanges of hands &Ā feet | |||
Radial deviation of indexĀ 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 withĀ 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, vertebralĀ 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,Ā SORSBY SYNDROME'') | |||
|Type B brachydactyly | |||
|Bilateral pigmented macularĀ coloboma | |||
Absent kidney (unilateral orĀ bilateral) | |||
Sensorineural hearing loss | |||
|120400, AD | |||
|Sorsby [13] | |||
Thompson & | |||
Baraitser [14] | |||
Bacchelli ''et al.'' [15] | |||
|- | |||
| | |||
# '''Temtamy syndrome ofĀ ''' | |||
'''craniofacial dysmorphism,''' | |||
'''ocular coloboma,''' | |||
'''absent corpus callosum &Ā aortic dilatation''' | |||
|Brachydactyly of hands andĀ 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 andĀ 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 distalĀ phalanx & | |||
nails of thumbs & greatĀ toes | |||
|Hirschsprung disease | |||
|306980, X-linked | |||
|Reynolds ''et al.'' [22] | |||
|- | |||
| | |||
# '''Rubinstein-Taybi''' | |||
'''Syndrome''' (syn: ''RSTS,Ā BROAD-THUMB HALLUX SYNDROME'') | |||
|Broad thumbs & big toes | |||
(Fig. 6B, C, D) | |||
|Characteristic facies withĀ 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] | |||
|- | |||
| | |||
# '''AlbrightĀ Ā Ā hereditary osteodystrophy''' | |||
(syn: ''AHO,PSEUDOHYPOPARATHYROIDISM, PHP, pseudo-pseudohypoparathyroidism,PPHP'') | |||
|Type E brachydactyly | |||
(Typically, shortening ofĀ 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 RetardationĀ Ā Ā syndrome''' (syn: ''BDMRĀ Ā Ā - ALBRIGHT HEREDITARY OSTEODYSTROPHY-LIKE SYNDROME - ALBRIGHT HEREDITARYĀ Ā Ā 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] | |||
|- | |||
| | |||
==== 14. Ā Ā Brachydactyly type E with hypertension (syn:Ā ''HTNB, BRACHYDACTYLY WITH HYPERTENSION, BRACHYDACTYLY, TYPE E, WITH SHORTĀ 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 arteryĀ by | |||
MRI angiography of posteriorĀ fossa, | |||
No significant | |||
ophthalmologic findings ofĀ prolonged hypertension, | |||
Hypertension is medicallyĀ responsive. | |||
|112410, AD | |||
|BilginturanĀ ''et al.'' [31] | |||
Luft ''et al.'' [32] | |||
Schuster ''et al.'' [33] | |||
Bahring ''et al.'' [34] | |||
Nagai ''et al.'' [35] | |||
Bahring ''et al.'' [36] | |||
ChitayatĀ ''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. TipĀ of | |||
thumb extended distal to theĀ | |||
proximal interphalangealĀ joint of | |||
index finger when digits areĀ | |||
opposed. | |||
|Skeletal & jointĀ anomalies | |||
Cardiac conduction defects | |||
|112430, AD | |||
|Hollister and Hollister | |||
[42] | |||
|- | |||
| | |||
# '''DigitalĀ Ā Ā arthropathy-brachydactyly, familial''' (syn: ''FDAB'') | |||
|Progressive brachydactyly ofĀ | |||
middle & distalĀ phalanges of hands & feet with onset in the first decade | |||
of life. | |||
|Progressive arthropathy of theĀ interphalangeal, metacarpophalangeal & metatarsophalangeal joints | |||
Proximal articular surfaces | |||
become flattened &Ā deformed | |||
Changes are more marked in | |||
hands than feet | |||
Presumably subchondral | |||
pathology primarily affects | |||
heads of phalanges, | |||
metacarpals &Ā metatarsals | |||
|606835, AD | |||
|Amor ''et al.'' [43] | |||
|- | |||
| | |||
# '''Ulnar/fibularĀ Ā Ā ray defect and brachydactyly'''Ā | |||
|Brachydactyly of digits | |||
|Ulnar/fibular hypoplasia | |||
Ulnar ray defects | |||
Midface hypoplasia | |||
Atrial septal defects &Ā hemangioma | |||
Normal mammary tissue & | |||
Sweating | |||
Short stature | |||
|608571, AD | |||
|Morava ''et al.'' [44] | |||
|- | |||
| | |||
# '''Fibular hypoplasia and complexĀ Ā Ā brachydactyly''' (syn: ''duĀ Ā Ā Pan SYNDROME,'' | |||
''GREBE SYNDROME, MESOMELIA-TYPE HUNTER-THOMPSON'') | |||
|Complex type of brachydactyly: | |||
Short various metacarpals,Ā small carpals, trapezoid middle phalanx | |||
of index finger with radialĀ deviation | |||
Short laterally deviated | |||
hypoplastic toes (ball-like)Ā | |||
(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-Ā Ā Ā Mononen typeĀ ''' (syn: ''THUMBSĀ Ā Ā AND GREAT TOES, SHORT AND ABDUCTED'') | |||
|Preaxial brachydactyly &Ā abducted thumbs & big toes | |||
X-ray hands & feet showĀ short 1<sup>st</sup> metacarpals & 1<sup>st</sup> metatarsals & | |||
absent distal phalanges ofĀ index fingers &Ā 2<sup>nd</sup>Ā toes | |||
Coalescence of carpal &Ā tarsal bones | |||
|Mild short stature | |||
Bow legs with proximalĀ overgrowth of fibula | |||
|301940, | |||
X-linked dominant | |||
(XLD) | |||
|Mononen ''et al.'' [52] | |||
|- | |||
| | |||
==== 20. Ā Ā Brachydactyly, preaxial, with hallux varus and thumbĀ abduction (syn: ''CHRISTIAN BRACHYDACTYLY'') ==== | |||
|Short abducted thumbs &Ā big toes | |||
Short metacarpals,Ā metatarsals & | |||
distal phalanges | |||
|Mental retardation | |||
|112450,Ā AD | |||
|Christian ''et al.'' [53] | |||
|- | |||
| | |||
=== 21. Ā Ā Temtamy preaxialĀ brachydactyly syndrome (syn:Ā ''PREAXIAL BRACHYDACTYLYĀ SYNDROME,Ā TEMTAMYĀ TYPE'') === | |||
|Bilateral symmetricalĀ preaxial brachydactyly and | |||
Hyperphalangism of digitsĀ 1-3 | |||
Ulnar deviation of 5<sup>th</sup>Ā fingers & accessory ossicles of digits 2-5 & abnormal phalanges ofĀ thumbs | |||
(Fig. 9) | |||
|Mental retardation | |||
Growth retardation | |||
Sensorineural deafness | |||
Rounded facies (Fig, 9A) | |||
Micrognathia | |||
Talon cusps of upper centralĀ incisors | |||
Cleft palate | |||
|605282, AR | |||
|Temtamy ''et al.'' [54] | |||
Clarkson ''et al.'' [55] | |||
Temtamy [56] | |||
Temtamy ''et al.'' [unpublished | |||
observations] | |||
|} | |||
== Resources == | |||
{{PDF|Brachyactyly - Temtamy 2008.pdf}} | {{PDF|Brachyactyly - Temtamy 2008.pdf}} | ||
== References == | |||
[[Category:Developmental Disorders]] | [[Category:Developmental Disorders]] | ||
[[Category:Hand and Wrist Conditions]] | [[Category:Hand and Wrist Conditions]] |
Revision as of 10:29, 10 January 2023
Isolated Types
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] |
|
Resembles type A1 brachydactyly
With stiff thumbs |
Mental retardation | 188201,
Dominant mutation (DM) |
Piussan et al. [2]
Barber et al. [3] |
|
Resembles type A2 brachydactyly | Microcephaly
Seizure disorder with generalized spike-wave discharges by EEG Diabetes mellitus
|
211369,
Autosomal recessive (AR) |
Graham [4] |
|
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] |
(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] |
|
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] |
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] |
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] |
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] |
with type D brachydactyly |
Absence or short distal phalanx &
nails of thumbs & great toes
|
Hirschsprung disease | 306980, X-linked | Reynolds et al. [22] |
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] |
(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] |
|
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] |
14. 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] |
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] |
|
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] |
|
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] |
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] |
|
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] |
20. 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] |
21. 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] |
Resources
References
- ā Temtamy, Samia A.; Aglan, Mona S. (2008-06-13). "Brachydactyly". Orphanet Journal of Rare Diseases. 3: 15. doi:10.1186/1750-1172-3-15. ISSN 1750-1172. PMC 2441618. PMID 18554391.