Brachydactyly

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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.

Types of isolated brachydactyly (Temtamy and McKusick after Bell)

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

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]
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

Brachyactyly - Temtamy 2008.pdf - 4.91 MB (f)