Brachydactyly

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Syndromic Causes

Manifestations in some selected syndromes with associated brachydactyly. See original table for references.

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]
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]
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]
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]

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