ORPHA:464288
Short stature-brachydactyly-obesity-global developmental delay syndrome
Synonyms: SBIDDS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short stature-brachydactyly-obesity-global developmental delay syndrome | SBIDDS |
| fr | Syndrome de petite taille-brachydactylie-obésité-retard global de développement | = en |
| de | Kleinwuchs-Brachydaktylie-Adipositas-globale Entwicklungsverzögerung-Syndrom | |
| es | Síndrome de talla baja-braquidactilia-obesidad-retraso global del desarrollo | = en |
| it | Sindrome bassa statura - brachidattilia - obesità - ritardo dello sviluppo globale | |
| nl | Kleine gestalte - brachydactylie - obesitas - algemene ontwikkelingsachterstand-syndroom | = en |
| pt | Síndrome de baixa estaura-braquidactilía-obesidade-perturbação do desenvolvimento global | |
| pl | Zespół niskiego wzrostu, brachydaktylii, otyłości i opóźnienia rozwoju | = en |
| cs | Syndrom zahrnující malý vzrůst, brachydaktylii, obezitu a vývojové opoždění | = en |
| uk | Низькорослість-брахідактилія-ожиріння-глобальна затримка розвитку | = en |
| zh | 身材矮小-短指畸形-肥胖-近身肥胖-前面发育迟缓综合征 | = en |
| tr | Kısa boy-brakidaktili-obezite-yaygın gelişme geriliği sendromu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617157 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014944 | E | validated | |
| UMLS | C5568868 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:93436Acromelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRMT7 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:25557 | ENSG00000132600 | 610087 | 16q22.1 | protein arginine methyltransferase 7 | 26437029[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 26437029[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26437029[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.
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HPO phenotypes
45 annotations · validated 2020-01-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0001156 | Brachydactyly | |
| HP:0000490 | Deeply set eye | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000343 | Long philtrum | |
| HP:0004689 | Short fourth metatarsal | |
| HP:0000233 | Thin vermilion border | |
| Frequent (79-30%) | ||
| HP:0012443 | Abnormality of brain morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0000028 | Cryptorchidism | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0012368 | Flat face | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000316 | Hypertelorism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001513 | Obesity | |
| HP:0011220 | Prominent forehead | |
| HP:0001250 | Seizure | |
| HP:0000470 | Short neck | |
| HP:0001328 | Specific learning disability | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0031938 | Abnormal conus terminalis morphology | |
| HP:0000818 | Abnormality of the endocrine system | |
| HP:0000592 | Blue sclerae | |
| HP:0000589 | Coloboma | |
| HP:0000620 | Dacryocystitis | |
| HP:0011968 | Feeding difficulties | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001601 | Laryngomalacia | |
| HP:0000252 | Microcephaly | |
| HP:0003065 | Patellar hypoplasia | |
| HP:0000384 | Preauricular skin tag | |
| HP:0000852 | Pseudohypoparathyroidism | |
| HP:0000089 | Renal hypoplasia | |
| HP:0000278 | Retrognathia | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0010535 | Sleep apnea | |
| HP:0007074 | Thick corpus callosum | |
| HP:0000076 | Vesicoureteral reflux | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 27718516[PMID_28902392[PMID]_26437029[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/464288
- This record as JSON: /data/d/464288.json