Short metacarpals and symphalangism are occasionally present. The feet are either normal or show ordinary brachydactyly. [ojrd.biomedcentral.com]

• Short Stature

  Other signs of the disorder may include having very flexible joints (hyperextensibility) in the hands and being shorter than family members who do not have the disorder (short stature ).[1][2] Brachydactyly type E can be isolated or syndromic. [rarediseases.info.nih.gov]

  Brachydactyly type E occurs with short stature and severe hypertension as an autosomal dominant syndrome (OMIM: 112410). [ojrd.biomedcentral.com]

• Brachydactyly

  Brachydactyly type E is a genetic disorder that causes some of the bones of the hands or feet to be shorter than expected. [rarediseases.info.nih.gov]

  Figure 1 illustrates the changes in the main types of isolated brachydactyly. Table 2 shows the genomics of isolated brachydactyly. Figure 1 A diagram showing main types of isolated brachydactyly. Modified from Temtamy & McKusick [1]. [ojrd.biomedcentral.com]

  Oude Luttikhuis ME et al. (1996) Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13. 3. None (1968) Brachydactyly and pseudo-pseudohypoparathyroidism. 4. [moldiag.com]

• Skeletal Dysplasia

  (Limb Malformations & Skeletal Dysplasia Clinic, MSU, NRC). Full size image Short metacarpals and metatarsals are frequent findings in other types of brachydactyly and are features of several genetic syndromes. [ojrd.biomedcentral.com]

Genetic testing may be used to rule out genetic syndromes associated with brachydactyly.[3][4] If brachydactyly type E is isolated and is not causing other physical or health problems, treatment may not be necessary.[4] Last updated: 4/22/2018 [rarediseases.info.nih.gov]

Epidemiology A very rare digital malformation. No epidemiologic studies available. Reported pedigrees are summarized in OMIM [4]. [ojrd.biomedcentral.com]