raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:95707

Idiopathic isolated micropenis

Type
Morphological anomaly
Group
Disorder
Age of onset
Neonatal
Status
active

A rare, non-syndromic, urogenital tract malformation characterized by an anatomically normal penis which has a stretched penile length of less than 2.5 SD for age, in the absence of any other abnormalities and with no known cause.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enIdiopathic isolated micropenis
frMicropénis isolé idiopathique
deIdiopathischer Mikropenis, isolierte Form
esMicropene idiopático aislado
itMicropene idiopatico isolato
nlIdiopathische geïsoleerde micropenis
ptMicropenis isolado
plIdiopatyczny, izolowany mikropenis
csIzolovaný mikropenis
ukІдіопатичний ізольований мікропеніс
zh特发性孤立性小阴茎
trİdiyopatik izole mikropenis

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10Q55.6NTBTinclusionvalidated
ICD-11LB50NTBTspecificvalidated
MONDO19849Evalidated
UMLSC5681560Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalenceUnknown—WorldwideClass onlyValidatedORPHANET_21527236[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

3 annotations · validated 2016-09-14
HPOTerm (as annotated by Orphanet)Diagnostic
Obligate (100%)
HP:0000054Micropenis
Excluded (0%)
HP:0000062Ambiguous genitalia
HP:0000047Hypospadias

Run the differential on the 1 obligate / very frequent terms

Annotation source: 8559204[PMID]_1929508[PMID]_12843198[PMID]_21147889[PMID]_21147889[PMID]_9106076[PMID]_2248513[PMID]_11701709[PMID]_9626653[PMID]

7

Sources for this card