Rare diseases · Sign or symptom
Hypoplasia of penis
Underdeveloped penis
HP:0008736
Rare diseases that can present with this101
Very common80–99%
34- 3q13microdeletion syndrome
- 46,XX ovotesticular difference of sex development
- 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
- 46,XY partial gonadal dysgenesis
- 49,XXXXY syndrome
- 8p11.2deletion syndrome
- Agnathia-holoprosencephaly-situs inversus syndrome
- Autosomal dominant Robinow syndrome
- Autosomal recessive Robinow syndrome
- Borjeson-Forssman-Lehmann syndrome
- Classic bladder exstrophy
- Cloacal exstrophy
- Difference of sex development-intellectual disability syndrome
- Distal monosomy 7q36 syndrome
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- Holoprosencephaly-postaxial polydactyly syndrome
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
- Intellectual disability-myopathy-short stature-endocrine defect syndrome
- Intellectual disability-polydactyly-uncombable hair syndrome
- Kallmann syndrome
- Lathosterolosis
- Lethal hemolytic anemia-genital anomalies syndrome
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
- Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
- MEHMO syndrome
- Prominent glabella-microcephaly-hypogenitalism syndrome
- Sudden infant death-dysgenesis of the testes syndrome
- Testicular regression syndrome
- Triploidy syndrome
- Trisomy 5p syndrome
- Urban-Rogers-Meyer syndrome
- X-linked intellectual disability, Cabezas type
- X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
- X-linked lissencephaly with abnormal genitalia
Common30–79%
36- 48,XXXY syndrome
- Ablepharon macrostomia syndrome
- Acrocardiofacial syndrome
- Ahmad syndrome
- Autosomal dominant omodysplasia
- Bardet-Biedl syndrome
- Björnstad syndrome
- Brachytelephalangy-dysmorphism-Kallmann syndrome
- Cerebrooculonasal syndrome
- Cornelia de Lange syndrome
- Deafness-intellectual disability syndrome, Martin-Probst type
- Distal duplication 18q syndrome
- Endocardial fibroelastosis
- Fraser syndrome
- Gemignani syndrome
- Kapur-Toriello syndrome
- Laron syndrome
- Laurence-Moon syndrome
- Maternal hyperthermia-induced birth defects
- Meacham syndrome
- Microphthalmia-microtia-fetal akinesia syndrome
- Micro syndrome
- Mosaic trisomy 14 syndrome
- Mosaic trisomy 9 syndrome
- Müllerian duct anomalies-limb anomalies syndrome
- Perlman syndrome
- Pituitary stalk interruption syndrome
- Septo-optic dysplasia spectrum
- Short rib-polydactyly syndrome, Verma-Naumoff type
- Smith-Lemli-Opitz syndrome
- Tetraamelia-multiple malformations syndrome
- Trisomy 17p syndrome
- Trisomy 8q syndrome
- Ulnar-mammary syndrome
- Walker-Warburg syndrome
- X-linked alpha-thalassemia-intellectual disability syndrome
Sometimes5–29%
10- 17p13.3microduplication syndrome
- 1p36deletion syndrome
- 2q23.1microdeletion syndrome
- 3C syndrome
- 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
- 48,XXYY syndrome
- 8q21.11microdeletion syndrome
- Anophthalmia/microphthalmia-esophageal atresia syndrome
and 2 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
Hypoplasia of penis
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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.