Catalog

Focal dermal hypoplasia

No MMS code

Link to WHO Definition

Focal dermal hypoplasia – http://id.who.int/icd/entity/683166625

Focal dermal hypoplasia or Goltz syndrome is a X-linked inherited syndrome characterised by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems. Skin changes are constituted by areas of cutaneous atrophy and periorificial papillomas that predominate around the mouth, genitalia and/or anus. Skeletal disorders include syndactyly, ectrodactyly and/or aplastic fingers and toes, scoliosis, hypoplastic clavicles and ribs, and a deformed thorax. Dental anomalies include malpositioned teeth, extra teeth and enamel defects. Eyes are affected by coloboma of the iris, microphthalmia, and/or strabismus. Psychomotor retardation may be present.