Rare diseases · Sign or symptom
Hirsutism
Excessive hairiness
HP:0001007
What it means
Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
Rare diseases that can present with this55
Very common80–99%
12- Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
- Edinburgh malformation syndrome
- Epilepsy-microcephaly-skeletal dysplasia syndrome
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
- FGFR2-related bent bone dysplasia
- Generalized glucocorticoid resistance syndrome
- Gingival fibromatosis-hypertrichosis syndrome
- Müllerian aplasia and hyperandrogenism
- Multicentric osteolysis-nodulosis-arthropathy spectrum
- Ovarian hyperstimulation syndrome
- Pseudoleprechaunism syndrome, Patterson type
- RIN2 syndrome
Common30–79%
19- Cerebello-oculo-facio-genital syndrome
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Coffin-Siris syndrome
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Cushing disease
- Cushing syndrome due to bilateral macronodular adrenocortical disease
- Cushing syndrome due to ectopic ACTH secretion
- Insulin-resistance syndrome type B
- MOGS-CDG
- Morgagni-Stewart-Morel syndrome
- Mucopolysaccharidosis type 3
- PLAA-associated neurodevelopmental disorder
- Prolidase deficiency
- Rabson-Mendenhall syndrome
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
- Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
- Wiedemann-Rautenstrauch syndrome
- X-linked intellectual disability, Stocco Dos Santos type
Sometimes5–29%
22- Alström syndrome
- Carney complex
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
- Dermatosparaxis Ehlers-Danlos syndrome
- Dyssegmental dysplasia, Silverman-Handmaker type
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
- Fowler urethral sphincter dysfunction syndrome
- GM1 gangliosidosis
and 14 more in this range
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
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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.