Rare diseases · Sign or symptom
Abnormal hair morphology
Abnormality of the hair
HP:0001595
What it means
An abnormality of the hair.
Rare diseases that can present with this39
Very common80–99%
22- Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
- Anonychia with flexural pigmentation
- Atypical Werner syndrome
- Autosomal recessive hypohidrotic ectodermal dysplasia
- Chondroectodermal dysplasia with night blindness
- Dissecting cellulitis of the scalp
- Ellis-Van Creveld syndrome
- Epidermolysis bullosa acquisita
- Erosive pustular dermatosis of the scalp
- Hidrotic ectodermal dysplasia, Christianson-Fourie type
- Ichthyosis follicularis-alopecia-photophobia syndrome
- Intellectual disability-polydactyly-uncombable hair syndrome
- Juvenile hyaline fibromatosis
- Loose anagen syndrome
- Nijmegen breakage syndrome
- Pili bifurcati
- Progeroid syndrome, Petty type
- Pseudopelade of Brocq
- Quinquaud folliculitis decalvans
- Recombinant 8 syndrome
- Satoyoshi syndrome
- Uncombable hair syndrome
Common30–79%
12- 2q31.1microdeletion syndrome
- Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
- Darier disease
- Erythrokeratodermia variabilis
- Familial melanoma
- Familial peripheral male-limited precocious puberty
- Infantile myofibromatosis
- Lipodystrophy due to peptidic growth factors deficiency
- Mandibuloacral dysplasia with type B lipodystrophy
- Microcephaly-chorioretinopathy-lymphedema syndrome
- Striate palmoplantar keratoderma
- Waardenburg syndrome type 1
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, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Abnormality of the hair shaft · Hair abnormality
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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.