Difference of sex development-intellectual disability syndrome
historical
Synonyms: Disorder of sex development-intellectual disability syndrome · Verloes-Gillerot-Fryns syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. There have been no further descriptions in the literature since 1994.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Difference of sex development-intellectual disability syndrome | Disorder of sex development-intellectual disability syndrome · Verloes-Gillerot-Fryns syndrome |
| fr | Syndrome différence du développement sexuel-déficience intellectuelle | Syndrome d'anomalie du développement sexuel-déficience intellectuelle · Syndrome de Verloes-Gillerot-Fryns |
| de | Störung der Geschlechtsentwicklung-Intelligenzminderung-Syndrom | DSD-Intelligenzminderung-Syndrom · Verloes-Gillerot-Fryns-Syndrom |
| es | Síndrome de desarrollo sexual diferente-discapacidad intelectual | Síndrome de Verloes-Gillerot-Fryns · Síndrome de trastorno del desarrollo sexual-discapacidad intelectual |
| it | Sindrome disturbo dello sviluppo sessuale-disabilità intellettiva | Pseudoermafroditismo - ritardo mentale · Sindrome di Verloes-Gillerot-Fryns |
| nl | Geslachtsontwikkelingsstoornis - intellectuele achterstand-syndroom | Syndroom van Verloes-Gillerot-Fryns |
| pt | Síndrome de pseudo-hermafroditismo-perturbação do desenvolvimento intelectual | Pseudo-hermafroditismo-perturbação do desenvolvimento intelectual · Síndrome Verloes-Gillerot-Fryns |
| pl | Zaburzenie różnicowania płci - niepełnosprawność intelektualna | Pseudohermafrodytyzm - upośledzenie umysłowe · Zespół Verloesa, Gillerota i Frynsa |
| cs | Syndrom zahrnující poruchu sexuálního vývoje a mentální retardaci | Syndrom zahrnující pseudohermafroditismus a mentální retardaci · Verloesův-Gillerotův-Frynsův syndrom · Verloes-Gillerot-Frynsův syndrom |
| uk | Синдром порушення статевої диференціації - інтелектуальної недостатності | Синдром порушення статевого розвитку - інтелектуальної недостатності · Синдром Верлоєса-Гіллеро-Фрінса |
| zh | 性别分化异常-智力残疾综合征 | Verloes-Gillerot-Fryns综合征 |
| tr | Cinsiyet gelişim bozukluğu-zihinsel yetersizlik sendromu | Verloes-Gillerot-Fryns sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600122 | E | validated | |
| ICD-10 | Q56.3 | NTBT | attributed | validated |
| MONDO | 0010824 | E | validated | |
| MeSH | C536539 | E | validated | |
| UMLS | C2931233 | E | validated | |
| GARD | 4550 | 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):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98087Syndrome with 46,XY difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:325638Syndrome with difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 2098045[PMID]_8031539[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2098045[PMID]_8031539[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
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0000271 | Abnormality of the face | |
| HP:0000490 | Deeply set eye | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0002857 | Genu valgum | |
| HP:0000135 | Hypogonadism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001249 | Intellectual disability | |
| HP:0002808 | Kyphosis | |
| HP:0002162 | Low posterior hairline | |
| HP:0008551 | Microtia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0008625 | Severe sensorineural hearing impairment | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0000322 | Short philtrum | |
| HP:0010306 | Short thorax | |
| HP:0000046 | Small scrotum | |
| HP:0003298 | Spina bifida occulta | |
| HP:0000664 | Synophrys | |
| HP:0000233 | Thin vermilion border | |
| HP:0006610 | Wide intermamillary distance | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2983
- This record as JSON: /data/d/2983.json