Preferred Label : Focal dermal hypoplasia;
ICD-11 definition : Focal dermal hypoplasia or Goltz syndrome is a X-linked inherited syndrome characterized
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.;
ICD-11 synonym : Goltz-Gorlin syndrome; Goltz syndrome;
Origin ID : 683166625;
Automatic exact mappings (from CISMeF team)
Focal dermal hypoplasia or Goltz syndrome is a X-linked inherited syndrome characterized
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.
