ORPHA:293967
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Synonyms: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by severe, congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome | Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome |
| fr | Syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | |
| de | Hypogonadotroper Hypogonadismus - schwere Mikrozephalie - Sensorineurale Schwerhörigkeit - Dysmorphien | |
| es | Síndrome de hipogonadismo hipogonadotrópico-microcefalia grave-hipoacusia neurosensorial-dismorfia | Síndrome de hipogonadismo hipogonadotrópico-microcefalia grave-sordera neurosensorial-dismorfia |
| it | Sindrome da ipogonadismo ipogonadotropo, microcefalia grave, sordità neurosensoriale e dismorfismi | Sindrome ipogonadismo ipogonadotropo-microcefalia grave-sordità neurosensoriale-dismorfismi |
| nl | Hypogonadotroop hypogonadisme - ernstige microcefalie - sensorineuraal gehoorverlies - dysmorfie-syndroom | Hypogonadotroop hypogonadisme - ernstige microcefalie - sensorineurale doofheid - dysmorfie-syndroom |
| pt | Síndrome de hipogonadismo hipogonadotrópico-microcefalia grave-perda auditiva neurossensorial-dismorfia | Síndrome de hipogonadismo hipogonadotrópico-microcefalia grave-surdez neurossensorial-dismorfias |
| pl | Zespół hipogonadyzmu hipogonadotropowego, znacznego małogłowia, niedosłuchu zmysłowo-nerwowego i dysmorfii | Zespół hipogonadyzm hipogonadotropowy-znaczna mikrocefalia-głuchota zmysłowo-nerwowa |
| cs | Syndrom zahrnující hypogonadotropní hypogonadismus, závážnou mikrocefalii, senzorineurální ztrátu sluchu a dysmorfismus | Syndrom zahrnující hypogonadotropní hypogonadismus, závážnou mikrocefalii, senzorineurální hluchotu a dysmorfismus |
| uk | Синдром гіпогонадотропного гіпогонадизму-тяжкої мікроцефалії-сенсоневральної приглухуватості-дисморфізму | Синдром гіпогонадотропного гіпогонадизму - тяжкої мікроцефалії - сенсоневральної глухоти - дисморфізму |
| zh | 低促性腺激素性腺功能减退症-严重小头畸形-感音神经性聋-畸形综合征 | 低促性腺激素减退症-严重小头畸形-感音神经性耳聋-畸形综合征 |
| tr | Hipogonadotropik hipogonadizm-ağır mikrosefali-sensörinöral işitme kaybı-dismorfizm sendromu | Hipogonadotropik hipogonadizm-ağır mikrosefali-sensörinöral sağırlık-dismorfizm sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0017406 | E | validated | |
| UMLS | C4751123 | 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 (3):
- ORPHA:181387Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 22002932[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
47 annotations · validated 2016-02-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012795 | Abnormality of the optic disc | |
| HP:0010055 | Broad hallux | |
| HP:0008527 | Congenital sensorineural hearing impairment | |
| HP:0007642 | Congenital stationary night blindness | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000028 | Cryptorchidism | |
| HP:0100689 | Decreased corneal thickness | |
| HP:0008734 | Decreased testicular size | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0000771 | Gynecomastia | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000316 | Hypertelorism | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0003799 | Marked delay in bone age | |
| HP:0000252 | Microcephaly | |
| HP:0001935 | Microcytic anemia | |
| HP:0000347 | Micrognathia | |
| HP:0000054 | Micropenis | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0011408 | Moderate intrauterine growth retardation | |
| HP:0001270 | Motor delay | |
| HP:0000545 | Myopia | |
| HP:0001562 | Oligohydramnios | |
| HP:0000786 | Primary amenorrhea | |
| HP:0000411 | Protruding ear | |
| HP:0001250 | Seizure | |
| HP:0008850 | Severe postnatal growth retardation | |
| HP:0004322 | Short stature | |
| HP:0001328 | Specific learning disability | |
| HP:0000912 | Sprengel anomaly | |
| HP:0011246 | Underdeveloped superior crus of antihelix | |
| HP:0001123 | Visual field defect | |
| Frequent (79-30%) | ||
| HP:0000193 | Bifid uvula | |
| HP:0011304 | Broad thumb | |
| HP:0007266 | Cerebral dysmyelination | |
| HP:0009185 | Contracture of the proximal interphalangeal joint of the 5th finger | |
| HP:0002857 | Genu valgum | |
| HP:0001276 | Hypertonia | |
| HP:0000831 | Insulin-resistant diabetes mellitus | |
| HP:0001845 | Overlapping toe | |
| HP:0001761 | Pes cavus | |
| Occasional (29-5%) | ||
| HP:0001007 | Hirsutism | |
| HP:0006353 | Hypoplasia of the tooth germ | |
| HP:0002061 | Lower limb spasticity | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 22002932[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293967
- This record as JSON: /data/d/293967.json