ORPHA:227

Diphallia

Type: Morphological anomaly
Group: Disorder
Age of onset: Infancy, Neonatal
Status: active

A rare, non-syndromic, urogenital tract malformation characterized by complete or partial penile duplication, ranging from only glans duplication to the presence of two penis shafts with either one (i.e. bifid phallus) or two (i.e. true diphallia) corpora cavernosum in each. Additional anomalies, such as urethra duplication, an abnormal voiding pattern, hypo- or epispadias, bifid/ectopic scrotum, bladder exstrophy or duplication, are frequently associated, but it may also present as an isolated anomaly. In severe cases, pubic symphysis diastasis, imperforate or duplicated anus, colon/ rectosigmoidal duplication, inguinal hernia and vertebral anomalies may be observed.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Diphallia
fr	Diphallie
de	Diphallie
es	Difalia
it	Difallia
nl	Diphallus	Peniele duplicatie
pt	Difallus
pl	Zdwojenie prącia
cs	Difalie
uk	Дифалія
zh	双阴茎畸形
tr	Difallia

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q55.6	NTBT	index	validated
ICD-11	LB5Y	E	specific	validated
MONDO	0016416	E		validated
UMLS	C0345322	E		validated
GARD	1872	E		validated

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

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (1):

ORPHA:182121Non-syndromic urogenital tract malformation of male
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare transplant-related disorders

No children.

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Prevalence at birth	<1 / 1 000 000	0.02 / 100 000	Worldwide	Value and class	Not yet validated	23056729[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Not yet validated	23056729[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.

HPO phenotypes

29 annotations · validated 2016-06-06

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000119	Abnormality of the genitourinary system
HP:0100599	Bifid penis
HP:0000048	Bifid scrotum
Frequent (79-30%)
HP:0002023	Anal atresia
HP:0008706	Distal urethral duplication
HP:0030275	Ectopic scrotum
HP:0000047	Hypospadias
HP:0100600	Penoscrotal transposition
Occasional (29-5%)
HP:0001627	Abnormal heart morphology
HP:0008669	Abnormal spermatogenesis
HP:0011024	Abnormality of the gastrointestinal tract
HP:0003172	Abnormality of the pubic bone
HP:0001631	Atrial septal defect
HP:0002836	Bladder exstrophy
HP:0010475	Cloacal exstrophy
HP:0000028	Cryptorchidism
HP:0000039	Epispadias
HP:0011140	Gastrointestinal duplication
HP:0000085	Horseshoe kidney
HP:0000023	Inguinal hernia
HP:0000075	Renal duplication
HP:0004712	Renal malrotation
HP:0000073	Ureteral duplication
Very rare (<4-1%)
HP:0009777	Absent thumb
HP:0003316	Butterfly vertebrae
HP:0005223	Duplicated colon
HP:0002937	Hemivertebrae
HP:0004792	Rectoperineal fistula
HP:0002650	Scoliosis

Run the differential on the 3 obligate / very frequent terms

Annotation source: 26610674[PMID]_15764263[PMID]_26114007[PMID]_25115674[PMID]_25004320[PMID]_24383036[PMID]_25004320[PMID]_23413289[PMID]_23056874[PMID]_23056729[PMID]_18947662[PMID]_5846196[PMID]_21959003[PMID]_15764263[PMID]_2316091[PMID]_20510229[PMID]_10481971[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/227
This record as JSON: /data/d/227.json