Short stature-craniofacial anomalies-genital hypoplasia syndrome
Synonyms: Haspeslagh-Fryns-Muelenaere syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short stature-craniofacial anomalies-genital hypoplasia syndrome | Haspeslagh-Fryns-Muelenaere syndrome |
| fr | Syndrome de petite taille-anomalies craniofaciales-hypoplasie génitale | Syndrome de Haspeslagh-Fryns-Muelenaere |
| de | Kleinwuchs-kraniofaziale Anomalien-Genitalhypoplasie-Syndrom | Haspeslagh-Fryns-Muelenaere-Syndrom |
| es | Síndrome de talla baja-anomalías craneofaciales-hipoplasia genital | |
| it | Sindrome bassa statura-dismorfismi craniofacciali-ipoplasia dei genitali | |
| nl | Kleine gestalte - craniofaciale anomalieën - genitale hypoplasie-syndroom | Syndroom van Haspeslagh-Fryns-Muelenaere |
| pt | Síndrome de baixa estatura-anomalias craniofaciais-hipoplasia genital | Síndrome Haspeslagh-Fryns-Muelenaere |
| pl | Niski wzrost - wady twarzoczaszki - hipoplazja narządów płciowych | Zespół Haspeslagha, Frynsa i Muelenaere'a |
| cs | Syndrom zahrnující nízký vzrůst, kraniofaciální anomálie a hypoplázii genitálu | Haspeslaghův-Frynsův-Muelenaereův syndrom · Haspeslagh-Fryns-Muelenaereův syndrom |
| uk | Синдром низького зросту-черепно-лицьових аномалій-гіпоплазії геніталій | Синдром Хаспеслага-Фрінса-Мюленаере |
| zh | 身材矮小-颅面畸形-生殖器发育不良综合征 | Haspeslagh-Fryns-Muelenaere综合征 |
| tr | Kısa boy-kraniyofasiyal anomaliler-genital hipoplazi sendromu | Haspeslagh-Fryns-Muelenaere sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 177980 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008335 | E | validated | |
| MeSH | C535844 | E | validated | |
| UMLS | C1867443 | E | validated | |
| GARD | 2605 | 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 (2):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
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 families | Worldwide | Family(ies) | Validated | 10733241[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10733241[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
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008046 | Abnormal retinal vascular morphology | |
| HP:0009775 | Amniotic constriction ring | |
| HP:0000823 | Delayed puberty | |
| HP:0000286 | Epicanthus | |
| HP:0012368 | Flat face | |
| HP:0002007 | Frontal bossing | |
| HP:0008499 | High hypermetropia | |
| HP:0001249 | Intellectual disability | |
| HP:0000308 | Microretrognathia | |
| HP:0008551 | Microtia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0004322 | Short stature | |
| HP:0000243 | Trigonocephaly | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001166 | Arachnodactyly | |
| HP:0000175 | Cleft palate | |
| HP:0006101 | Finger syndactyly | |
| HP:0000316 | Hypertelorism | |
| HP:0000821 | Hypothyroidism | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000252 | Microcephaly | |
| HP:0000470 | Short neck | |
| Occasional (29-5%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0004397 | Ectopic anus | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0001199 | Triphalangeal thumb | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2994
- This record as JSON: /data/d/2994.json