Rare diseases · Sign or symptom
Clitoral hypertrophy
Enlarged clitoris
HP:0008665
What it means
Hypertrophy of the clitoris.
Increased size of the clitoris.
Rare diseases that can present with this29
Very common80–99%
6Common30–79%
11- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
- Donohue syndrome
- Ear-patella-short stature syndrome
- Rabson-Mendenhall syndrome
- Roberts syndrome
- Smith-Lemli-Opitz syndrome
- Syndactyly-telecanthus-anogenital and renal malformations syndrome
- Ulbright-Hodes syndrome
- Zellweger syndrome
Sometimes5–29%
12- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
- Congenital generalized lipodystrophy
- Duplication of urethra
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- Maternal uniparental disomy of chromosome 6 syndrome
- Microphthalmia with linear skin defects syndrome
- Oculocerebrofacial syndrome, Kaufman type
- Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
and 4 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
Also called: Clitoral enlargement · Clitoromegaly · Hypertrophic clitoris · Prominent clitoris
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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.