Rare diseases · Sign or symptom
Aplasia/Hypoplasia of the skin
Absent/small skin
HP:0008065
Rare diseases that can present with this40
Very common80–99%
21- Acrogeria
- Adams-Oliver syndrome
- Atypical Werner syndrome
- Autosomal recessive palmoplantar keratoderma and congenital alopecia
- Autosomal semi-dominant severe lipodystrophic laminopathy
- Barber-Say syndrome
- Dermatoosteolysis, Kirghizian type
- Exostoses-anetodermia-brachydactyly type E syndrome
- Familial partial lipodystrophy, Dunnigan type
- Focal facial dermal dysplasia type III
- Huriez syndrome
- Kindler epidermolysis bullosa
- Lenz-Majewski hyperostotic dysplasia
- Lipodystrophy due to peptidic growth factors deficiency
- Microphthalmia with linear skin defects syndrome
- Nodular non-suppurative panniculitis
- Oculocerebrocutaneous syndrome
- Oculoectodermal syndrome
- Porokeratosis of Mibelli
- PPARG-related familial partial lipodystrophy
- Prolidase deficiency
Common30–79%
13- Autosomal recessive multiple pterygium syndrome
- Curry-Jones syndrome
- Cutis marmorata telangiectatica congenita
- Dyskeratosis congenita
- Dysosteosclerosis
- EEC syndrome
- Epidermolysis bullosa simplex with muscular dystrophy
- Juvenile hyaline fibromatosis
- Progressive hemifacial atrophy
- Severe hereditary thrombophilia due to congenital protein C deficiency
- Severe hereditary thrombophilia due to congenital protein S deficiency
- Werner syndrome
- Xp22.3microdeletion syndrome
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Absent/underdeveloped skin
Aplasia/Hypoplasia of the skin
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.