Chondrodysplasia-difference of sex development syndrome
Synonyms: Chondrodysplasia-disorder of sex development syndrome · Chondrodysplasia-pseudohermaphroditism syndrome · Nivelon-Nivelon-Mabille syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare difference of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chondrodysplasia-difference of sex development syndrome | Chondrodysplasia-disorder of sex development syndrome · Chondrodysplasia-pseudohermaphroditism syndrome · Nivelon-Nivelon-Mabille syndrome |
| fr | Syndrome de chondrodysplasie-différence du développement sexuel | Syndrome de chondrodysplasie-anomalie du développement sexuel · Syndrome de chrondrodysplasie-pseudohermaphroditisme |
| de | Chondrodysplasie-Variante der Geschlechtsentwicklung-Syndrom | Chondrodysplasie-DSD-Syndrom · Nivelon-Nivelon-Mabille Syndrom |
| es | Síndrome de condrodisplasia-desarrollo sexual diferente | Síndrome de Nivelon-Nivelon-Mabille · Síndrome de condrodisplasia-pseudohermafroditismo · Síndrome de condrodisplasia-trastorno del desarrollo sexual |
| it | Sindrome condrodisplasia-differenza dello sviluppo sessuale | Condrodisplasia - pseudoermafroditismo · Sindrome condrodisplasia-disturbo dello sviluppo sessuale · Sindrome condrodisplasia-pseudoermafroditismo · Sindrome di Nivelon-Nivelon-Mabille |
| nl | Chondrodysplasie - variatie in geslachtelijke ontwikkeling-syndroom | Chondrodysplasie - geslachtsontwikkelingsstoornis-syndroom · Chondrodysplasie - pseudohermafroditisme-syndroom · Syndroom van Nivelon-Nivelon-Mabille |
| pt | Síndrome de condrodisplasia-desenvolvimento sexual diferente | Síndrome Nivelon-Nivelon-Mabille · Síndrome de condrodisplasia-doença do desenvolvimento sexual · Síndrome de condrodisplasia-pseudohermafroditismo |
| pl | Chondrodysplazja - zaburzenie rozwoju płci | Chondrodysplazja - pseudohermafrodytyzm · Zespół Nivelona, Nivelona i Mabille'a · Zespół chondrodysplazji i zaburzeń rozwoju płciowego |
| cs | Syndrom zahrnující chondrodysplázii a poruchy pohlavního vývoje | Syndrom zahrnující chondrodysplázii a pseudohermafroditismus · Nivelonův syndrom |
| uk | Синдром хондродисплазії - порушення статевого розвитку | Синдром хондродисплазії-порушення статевого розвитку · Синдром хондродисплазії-псевдогермафродитизму · Синдром Нівелона-Нівелона-Мабільє |
| zh | 软骨发育不良-性别分化异常综合征 | Nivelon-Nivelon-Mabille综合征 |
| tr | Kondrodisplazisi-cinsiyet gelişim bozukluğu sendromu | Nivelon-Nivelon-Mabille sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600092 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.0Y | NTBT | attributed | validated |
| MONDO | 0010814 | E | validated | |
| MeSH | C536123 | E | validated | |
| UMLS | C1838654 | 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 (5):
- ORPHA:364536Primary bone dysplasia with micromelia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:519286Rare disorder of the pupil
rare ophthalmic disorders - ORPHA:522568Rare genetic disorder of the pupil
rare genetic 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HHAT | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18270 | ENSG00000054392 | 605743 | 1q32.2 | hedgehog acyltransferase | 24784881[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 1342874[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1342874[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
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0003043 | Abnormality of the shoulder | |
| HP:0005622 | Broad long bones | |
| HP:0004330 | Increased skull ossification | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0002983 | Micromelia | |
| HP:0000774 | Narrow chest | |
| HP:0003510 | Severe short stature | |
| HP:0010049 | Short metacarpal | |
| HP:0009803 | Short phalanx of finger | |
| HP:0000506 | Telecanthus | |
| Frequent (79-30%) | ||
| HP:0000581 | Blepharophimosis | |
| HP:0006872 | Cerebral hypoplasia | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0000490 | Deeply set eye | |
| HP:0007676 | Hypoplasia of the iris | |
| HP:0000037 | Male pseudohermaphroditism | |
| HP:0000616 | Miosis | |
| HP:0000486 | Strabismus | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1422
- This record as JSON: /data/d/1422.json