Preferred Label : Brachydactyly, combined b and e types;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : Brachydactyly, ballard type; Pitt-williams brachydactyly;
Description : In 12 members of 4 generations, Pitt and Williams (1985) found a 'new' type of brachydactyly
combining features of types B (see 113000) and E (113300): hypoplasia of the distal
phalanges of the ulnar side of the hand and shortening of 1 or more metacarpals. The
subjects were, however, not short of stature as in type E. Male-to-male transmission
was noted in several instances. Pitt and Williams (1985) called this phenotype brachydactyly
type Ballard after the name of the family. Jensen and Hoo (2004) described a family
similar to that of Pitt and Williams (1985) but pointed out that both families resemble
very much type E brachydactyly and were likely a variant form of that phenotype. In
particular they considered the condition in both families to be compatible with the
subtype E2 as suggested by Hertzog (1968). *FIELD* RF 1. Hertzog, K. P.: Brachydactyly
and pseudo-pseudohypoparathyroidism. Acta Genet. Med. Gemellol. 17: 428-437, 1968.
2. Jensen, K.; Hoo, J. J.: Is brachydactyly type Ballard A variant of brachydactyly
type E? (Letter) Am. J. Med. Genet. 129A: 95-97, 2004. 3. Pitt, P.; Williams, I.:
A new brachydactyly syndrome with similarities to Julia Bell types B and E. J. Med.
Genet. 22: 202-204, 1985. *FIELD* CS Autosomal dominant;
Inheritance : Autosomal dominant;
Prefixed ID : %112440;
Origin ID : 112440;
UMLS CUI : C1862163;
CISMeF manual mappings
- Currated CISMeF NLP mapping
- DO Cross reference
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
