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)[1]
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 2ā€“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. [1] 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

  1. ā†‘ 1.0 1.1 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.