Brachydactyly: Difference between revisions
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Delayed coalescence of Ā | Delayed coalescence of Ā | ||
bipartite calcanei Ā | bipartite calcanei (in younger members). Ā | ||
Ā | |||
(in younger members). Ā | |||
Hamate and capitate fusion | Hamate and capitate fusion | ||
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Umbilical hernia | Umbilical hernia | ||
Characteristic fetal face Ā | Characteristic fetal face (Fig. 4A) Ā | ||
Ā | |||
(Fig. 4A) | |||
Hypogenitalism (Fig. 4B) | Hypogenitalism (Fig. 4B) | ||
Gingival hypertrophy | Gingival hypertrophy (Fig. 5B) | ||
Ā | |||
(Fig. 5B) | |||
Multiple ribs, vertebralĀ anomalies, hemivertebrae & scoliosis more in common in AR type Ā | Multiple ribs, vertebralĀ anomalies, hemivertebrae & scoliosis more in common in AR type (Fig. 5C) Ā | ||
Ā | |||
(Fig. 5C) | |||
|180700, AD | |180700, AD | ||
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(syn: ''APICAL DYSTROPHY,Ā SORSBY SYNDROME'') | (syn: ''APICAL DYSTROPHY,Ā SORSBY SYNDROME'') | ||
|Type B brachydactyly | |Type B brachydactyly | ||
|Bilateral pigmented macular | |Bilateral pigmented macular coloboma | ||
Absent kidney (unilateral orĀ bilateral) | Absent kidney (unilateral orĀ bilateral) | ||
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(Fig. 6B, C, D) | (Fig. 6B, C, D) | ||
| Characteristic facies with | | Characteristic facies with long nose & antimongoloid slanting of eyes (Fig. 6A) | ||
Ā | |||
of eyes (Fig. 6A) | |||
Ā | |||
Cardiac anomalies | Cardiac anomalies | ||
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phalanx) | phalanx) | ||
|Resistance to multiple Ā | |Resistance to multiple hormones that work via cAMP | ||
Ā | |||
hormones that work via Ā | |||
Ā | |||
cAMP | |||
Ā | |||
Short stature | Short stature | ||
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Subcutaneous ossifications | Subcutaneous ossifications | ||
Pseudohypoparathyroidism | Pseudohypoparathyroidism Ā | ||
Ā | |||
Ā | |||
Hypocalcemia & elevated PTH levels | |||
normal Ca & PTH levels | Patients with PPHP have normal Ca & PTH levels Ā | ||
|103580, AD | |103580, AD | ||
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Eczema | Eczema | ||
Normal PTH and Ca Ā | Normal PTH and Ca metabolism | ||
Normal levels of Gs-alpha and de novo deletions of 2q37 Ā | |||
Ā | |||
Normal levels of Gs-alpha Ā | |||
Ā | |||
and de novo deletions Ā | |||
Ā | |||
of 2q37 | |||
|600430, sporadic | |600430, sporadic | ||
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| Essential hypertension, | | Essential hypertension, | ||
Diminished baroreflex Ā | Diminished baroreflex sensitivity with markedly improved blood pressure Ā | ||
Ā | |||
sensitivity with markedly Ā | |||
Ā | |||
improved blood pressure Ā | |||
buffering, | buffering, | ||
Loops in the posterior/ | Loops in the posterior/inferior cerebellar artery by MRI angiography of posteriorĀ fossa, | ||
Ā | |||
inferior cerebellar artery | |||
Ā | |||
MRI angiography of posteriorĀ fossa, | |||
Ā | |||
ophthalmologic findings ofĀ prolonged hypertension, | No significant ophthalmologic findings ofĀ prolonged hypertension, Ā | ||
Hypertension is medically | Hypertension is medically responsive. Ā | ||
|112410, AD | |112410, AD | ||
|BilginturanĀ ''et al.'' [31] | |BilginturanĀ ''et al.'' [31] | ||
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of life. | of life. | ||
|Progressive arthropathy of the | |Progressive arthropathy of the interphalangeal, metacarpophalangeal & metatarsophalangeal joints | ||
Proximal articular surfaces Ā | Proximal articular surfaces Ā | ||
become flattened & | become flattened & deformed Ā | ||
Ā | |||
Ā | |||
Ā | |||
Changes are more marked in hands than feet | |||
heads of phalanges, Ā | Presumably subchondral pathology primarily affects heads of phalanges, Ā | ||
metacarpals &Ā metatarsals Ā | metacarpals &Ā metatarsals Ā | ||
Line 465: | Line 423: | ||
(Figs. 7 & 8) | (Figs. 7 & 8) | ||
|Bilateral absence of fibula Ā | |Bilateral absence of fibula (Fig. 8A) | ||
Ā | |||
(Fig. 8A) | |||
Ā | |||
Tibiotarsal dislocation Ā | Tibiotarsal dislocation Ā | ||
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|} | |} | ||
== Other Causes == | |||
* Pseudohypoparathyroidism (PHP) | |||
* Pseudopseudohypoparathyroidism (PPHP) | |||
* Acrodysostosis | |||
==Resources== | ==Resources== |
Revision as of 11:54, 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] |
Other Causes
- Pseudohypoparathyroidism (PHP)
- Pseudopseudohypoparathyroidism (PPHP)
- Acrodysostosis
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.