By definition: shortening of the fingers and toes. Can be isolated or associated with other malformations.The following classification (Bell) is used to categorize them:

• brachydactyly A: shortening of the middle phalanges

       a) A1, Farabee type  [MIM 112 500]:

• the anomaly is present in all fingers; hypoplastic distal phalanges; clinodactyly of fingers 2, 3, 4.
• autosomal dominant transmission of mutations of the IHH gene in 2q35-q36 or of the BDA1B gene on chromosome 5
• often: short stature

       b) A2, Mohr-Wriedt type  [MIM 112 600] : 

• only the second (triangular) phalanx of the  index and of the second toe is involved; causes clinodactyly of the index finger
• mutations of the CGMP1, BMPR1B or BMP2 gene

       c) A3, brachymesophalangia of the 5th finger  [MIM 112 700]: 

• autosomal dominant transmission; 1 to 5 % of the population; also in trisomy 21 and Silver-Russell syndrome (see these terms)
• anomalies of the second (triangular) phalanx of the little finger; causes camptodactyly

       d) A4, Temtamy type [MIM 112 800]: 

• anomalies of the second phalanx of fingers 2 and 5 with radial deviation of the index and clinodactyly of the little finger 
• autosomal dominant transmission of mutations of the ROR2 (9q22) or HOXD13 gene

       e) A5 [MIM 112 900] : brachymesophalangia II and V with duplication of the distal phalanx of the thumb 
                    and ungual dysplasia

       f) A6  [MIM 112 910] : brachymesophalangia II et V with mesomelic shortening of the limbs

• Brachydactyly type B: shortening of the middle and distal phalanges (hypoplastic or absent), segments II to V, causing a significant shortening of the fingers;

       a) B1 [MIM 113 000] : sometimes duplication of the distal phalanx of the thumbs and big toes 
          (large and mildly dysmorphic)

       b) B2 [MIM 611 377] : associated to distal symphalangism and fusion of the carpal and the tarsal bones

• Brachydactyly type C [MIM 113 100]: 

• complex hand anomaly due to global anomalies of the segmentation of the phalanges especially at the level of fingers 2 and 3: symphalangism, hyperphalangia; the 4th finger is normal and is thus longer than the other fingers
• mutation of the CDMP1 or GDNF5 gene (20q11.2) similar to acromesomelic dysplasia type Du Pan, Grebe and Hunter-Thompson syndrome

• Brachydactyly type D [MIM 113 200]:

• shortening of the distal phalanx of the thumb and big toe
•  HOXD13 gene ; present in Rubinstein-Taybi syndrome

• Brachydactyly type E [MIM 113 300]: 

• shortening of the metatarsals and metacarpals: normal fingers but short palms
• several genes may be responsible: HOXD13, HDAC4 on 2q37, PTHLH (with oligodontia, MIM 613 382) ; can be seen in Turner syndrome or in case of pseudo-hypoparathyroidism or pseudo-pseudo-hypoparathyroidism
• some cases are associated with severe arterial hypertension

Anesthetic implications: 

according to associated anomalies, check arterial blood pressure.

References : 

-         Manouvrier-Hanu S. 
Malformations syndromiques des membres in 
Progrès en Pédiatrie : syndromes dysmorphiques par Lacombe D et Philip N, Doin 2013, p201-20

Updated: July 2014