Brachydactyly: Difference between revisions
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'''Thumbs, stiff with brachydactyly type A1 and developmental delay''' | |||
|Resembles type A1 brachydactyly | |Resembles type A1 brachydactyly | ||
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'''Brachydactyly type A2 with microcephaly''' | |||
|Resembles type A2 brachydactyly | |Resembles type A2 brachydactyly | ||
|Microcephaly | |Microcephaly | ||
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Diabetes mellitus | Diabetes mellitus | ||
|211369, | |211369, | ||
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'''Microcephaly and digital anomalies with normal intelligence''' | |||
|Brachydactyly with radial | |Brachydactyly with radial | ||
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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 | 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 | ||
|Microcephaly | |Microcephaly | ||
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'''Brachydactyly type A 6''' | |||
(BDA6) (''BRACHYMESOPHALANGY WITH MESOMELIC SHORT LIMBS AND CARPAL AND TARSAL OSSEOUS ABNORMALITIES, OSEBOLD-REMONDINI SYNDROME'') | |||
|Hypoplastic or absent middle | |Hypoplastic or absent middle | ||
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'''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 | ||
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(Fig. 5C) | (Fig. 5C) | ||
|180700, AD | |180700, AD | ||
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Ali ''et al.'' [12] | Ali ''et al.'' [12] | ||
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'''Coloboma of macula with''' '''type B brachydactyly''' | |||
'''type B brachydactyly''' | |||
(syn: ''APICAL DYSTROPHY, SORSBY SYNDROME'') | (syn: ''APICAL DYSTROPHY, SORSBY SYNDROME'') | ||
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Sensorineural hearing loss | Sensorineural hearing loss | ||
|120400, AD | |120400, AD | ||
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'''Temtamy syndrome of craniofacial dysmorphism, ocular coloboma,''' '''absent corpus callosum & aortic dilatation''' | |||
'''absent corpus callosum & aortic dilatation''' | |||
|Brachydactyly of hands and feet | |Brachydactyly of hands and feet | ||
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Craniofacial dysmorphism | Craniofacial dysmorphism | ||
|218340, AR | |218340, AR | ||
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Li et al. [20] | Li et al. [20] | ||
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'''Brachydactyly,''' '''coloboma & anterior''' '''segment dysgenesis''' | |||
'''coloboma & anterior''' | |||
'''segment dysgenesis''' | |||
|Short digits and clinodactyly | |Short digits and clinodactyly | ||
|Anterior segment dysgenesis | |Anterior segment dysgenesis | ||
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Short stature | Short stature | ||
|610023, AD, | |610023, AD, | ||
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'''Hirschsprung disease''' '''with type D brachydactyly''' | |||
| Absence or short distal phalanx & | |||
'''with type D brachydactyly''' | |||
|Absence or short distal phalanx & | |||
nails of thumbs & great toes | nails of thumbs & great toes | ||
| Hirschsprung disease | |||
|Hirschsprung disease | |||
|306980, X-linked | |306980, X-linked | ||
|Reynolds ''et al.'' [22] | |Reynolds ''et al.'' [22] | ||
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'''Rubinstein-Taybi''' '''Syndrome''' | |||
(syn: ''RSTS, BROAD-THUMB HALLUX SYNDROME'') | |||
|Broad thumbs & big toes | |Broad thumbs & big toes | ||
(Fig. 6B, C, D) | (Fig. 6B, C, D) | ||
|Characteristic facies with long nose & antimongoloid slanting | | Characteristic facies with long nose & antimongoloid slanting | ||
of eyes (Fig. 6A) | of eyes (Fig. 6A) | ||
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[25] | [25] | ||
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'''Albright hereditary osteodystrophy''' | |||
(syn: ''AHO,PSEUDOHYPOPARATHYROIDISM, PHP, pseudo-pseudohypoparathyroidism,PPHP'') | (syn: ''AHO,PSEUDOHYPOPARATHYROIDISM, PHP, pseudo-pseudohypoparathyroidism,PPHP'') | ||
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normal Ca & PTH levels | normal Ca & PTH levels | ||
|103580, AD | |103580, AD | ||
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'''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 | ||
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of 2q37 | of 2q37 | ||
|600430, sporadic | |600430, sporadic | ||
|Wilson ''et al.'' [29] | | Wilson ''et al.'' [29] | ||
Shrimpton ''et al.'' [30] | Shrimpton ''et al.'' [30] | ||
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| | |'''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, | ||
Diminished baroreflex | Diminished baroreflex | ||
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'''Brachydactyly,''' '''long-thumb type''' | |||
'''long-thumb type''' | |||
|Symmetric brachydactyly and | |Symmetric brachydactyly and | ||
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opposed. | opposed. | ||
|Skeletal & joint anomalies | |Skeletal & joint anomalies | ||
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'''Digital arthropathy-brachydactyly, familial''' | |||
(syn: ''FDAB'') | |||
|Progressive brachydactyly of | |Progressive brachydactyly of | ||
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metacarpals & metatarsals | metacarpals & metatarsals | ||
|606835, AD | | 606835, AD | ||
|Amor ''et al.'' [43] | |Amor ''et al.'' [43] | ||
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'''Ulnar/fibular ray defect and brachydactyly''' | |||
|Brachydactyly of digits | |Brachydactyly of digits | ||
|Ulnar/fibular hypoplasia | |Ulnar/fibular hypoplasia | ||
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'''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: | ||
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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 | ||
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|Mononen ''et al.'' [52] | |Mononen ''et al.'' [52] | ||
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| | |'''Brachydactyly, preaxial, with hallux varus and thumb abduction''' | ||
(syn: ''CHRISTIAN BRACHYDACTYLY'') | |||
|Short abducted thumbs & big toes | |Short abducted thumbs & big toes | ||
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|Christian ''et al.'' [53] | |Christian ''et al.'' [53] | ||
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| | |'''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 | ||
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Cleft palate | Cleft palate | ||
|605282, AR | |605282, AR | ||
|Temtamy ''et al.'' [54] | | Temtamy ''et al.'' [54] | ||
Clarkson ''et al.'' [55] | Clarkson ''et al.'' [55] | ||
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|} | |} | ||
== Resources == | |||
==Resources== | |||
{{PDF|Brachyactyly - Temtamy 2008.pdf}} | {{PDF|Brachyactyly - Temtamy 2008.pdf}} | ||
== References == | ==References== | ||
[[Category:Developmental Disorders]] | [[Category:Developmental Disorders]] | ||
[[Category:Hand and Wrist Conditions]] | [[Category:Hand and Wrist Conditions]] | ||
<references /> |
Revision as of 10:31, 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] |
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] |
Resources
References
- ↑ 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.