Brachydactyly

== 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==
==References==
Category:Hand and Wrist Conditions
Category:Genetic Disorders