Short stature-optic atrophy-Pelger-Huët anomaly syndrome
Synonyms: SOPH syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short stature-optic atrophy-Pelger-Huët anomaly syndrome | SOPH syndrome |
| fr | Syndrome de petite taille-atrophie optique-anomalie de Pelger-Huët | Syndrome SOPH |
| de | Kleinwuchs-Optikusatrophie-Pelger-Huët-Anomalie-Syndrom | SOPH-Syndrom |
| es | Síndrome de talla baja-atrofia óptica-anomalía de Pelger-Huët | Síndrome SOPH |
| it | Sindrome da bassa statura-atrofia ottica-anomalia di Pelger-Huët | Sindrome SOPH |
| nl | Kleine gestalte - opticusatrofie - anomalie van Pelger-Huët-syndroom | SOPH-syndroom |
| pt | Síndrome de baixa estatura-atrofia óptica-anomalia Pelger-Huët | Síndrome SOPH |
| pl | Zespół niski wzrost-atrofia nerwu wzrokowego-anomalia Pelgera i Huëta | Zespół SOPH |
| cs | Syndrom zahrnující malý vzrůst, atrofii optiku a Pelgerovu-Huëtovu anomálii | SOPH syndrom · Syndrom zahrnující malý vzrůst, atrofii optiku a Pelger-Huëtovu anomálii |
| uk | Синдром низькорослості-атрофії зорового нерва-аномалії Пельгера-Гюе | Синдром SOPH |
| zh | 身材矮小-视神经萎缩-佩-休异常综合征 | SOPH综合征 |
| tr | Kısa boy-optik atrofi-Pelger-Huët anomali sendromu | SOPH sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614800 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0013889 | E | validated | |
| UMLS | C3541319 | E | validated | |
| GARD | 10945 | 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 (3):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NBAS | Disease-causing germline mutation(s) in | Assessed | HGNC:15625 | ENSG00000151779 | 608025 | 2p24.3 | NBAS subunit of NRZ tethering complex | 20577004[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 39 cases | Worldwide | Case(s) | Validated | 20577004[PMID]_26286438[PMID]_29955634[PMID]_27789416[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20577004[PMID]_29955634[PMID]_27789416[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/391677
- This record as JSON: /data/d/391677.json