ORPHA:3055
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
historical
Synonyms: Young-Hughes syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome | Young-Hughes syndrome |
| fr | Syndrome de déficience intellectuelle liée à l'X-hypogonadisme-ichtyose-obésité-petite taille | Syndrome de Young-Hughes |
| de | X-chromosomale Intelligenzminderung-Hypogonadismus-Ichthyose-Adipositas-Kleinwuchs-Syndrom | Young-Hughes-Syndrom |
| es | Síndrome de discapacidad intelectual-hipogonadismo-ictiosis-obesidad-talla baja ligado al cromosoma X | Síndrome de Young-Hughes |
| it | Sindrome disabilità intellettiva legata all' X- ipogonadismo-ittiosi-obesità-bassa statura | Sindrome di Young-Hughes |
| nl | X-gebonden intellectuele achterstand - hypogonadisme - ichthyosis - obesitas - kleine gestalte-syndroom | Syndroom van Young-Hughes |
| pt | Síndrome de perturbação do desenvolvimento intelectual-hipogonadismo-ictiose-obesidade-baixa estatura ligada ao X | Síndrome Young-Hugues |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X - niski wzrost - otyłość | Zespół Younga i Huguesa |
| cs | X-vázaný syndrom zahrnující mentální retardaci, hypogonadismus, ichtyózu, obezitu a malý vzrůst | Youngův-Hughesův syndrom · Young-Hughesův syndrom |
| uk | Синдром Х-зчепленої розумової відсталості-гіпогонадизму-іхтіозу-ожиріння- низькорослості | Синдром Янг-Хьюза |
| zh | X连锁智力障碍-性腺功能减退-鱼鳞病-肥胖-身材矮小综合征 | Young-Hughes综合征 |
| tr | X'e bağlı zihinsel yetersizlik-hipogonadizm-iktiyoz-obezite-kısa boy sendromu | Young-Hughes sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0017614 | E | validated | |
| MeSH | C536715 | E | validated | |
| UMLS | C0796264 | E | validated | |
| GARD | 345 | E | validated |
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 (5):
- ORPHA:281244Autosomal ichthyosis syndrome with other associated signs
rare genetic diseases; rare skin diseases - 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:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:85331OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 7175926[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7175926[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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001608 | Abnormality of the voice | |
| HP:0010468 | Aplasia/Hypoplasia of the testes | |
| HP:0000708 | Atypical behavior | |
| HP:0000028 | Cryptorchidism | |
| HP:0001263 | Global developmental delay | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001249 | Intellectual disability | |
| HP:0001513 | Obesity | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| HP:0000506 | Telecanthus | |
| Frequent (79-30%) | ||
| HP:0008064 | Ichthyosis | |
| Occasional (29-5%) | ||
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0004299 | Hernia of the abdominal wall | |
| HP:0000639 | Nystagmus | |
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3055
- This record as JSON: /data/d/3055.json