ORPHA:457395
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, and dysmorphic craniofacial features (including microcephaly, hypertelorism, epicanthal folds, mild ptosis, strabismus, malar hypoplasia, short nose, depressed nasal bridge, full lips, small, low-set ears, and short neck). Craniosynostosis, generalized hypotonia, as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | |
| fr | Syndrome de dysplasie spondylo-épimétaphysaire progressive-petite taille-quatrième métatarsien court-déficience intellectuelle | |
| de | Progressive spondyloepimetaphysäre Dysplasie-Kleinwuchs-kurze vierte Metatarsalen-Intelligenzminderung-Syndrom | |
| es | Síndrome de displasia espondiloepimetafisaria-talla baja-cuartos metatarsianos cortos-discapacidad intelectual progresivo | |
| it | Sindrome displasia spondiloepimetafisaria progressiva-bassa statura-dismorfismi facciali-quarto metatarso corto-disabilità intellettiva | |
| nl | Progressieve spondylo-epimetafysaire dyplasie - kleine gestalte - korte vierde metatarsalen - intellectuele achterstand-syndroom | |
| pt | Síndrome de displasia espondiloepimetafisária progressiva-baixa estatura-encurtamento do quarto metatarso-perturbação do desenvolvimento intelectual | |
| pl | Zespół postępującej dysplazji kręgowo-nasadowo-przynasadowej, niskiego wzrostu, krótkich czwartych kości śródstopia i niepełnosprawności intelektualnej | |
| cs | Syndrom zahrnující progresivní spondyloepimetafyzární dysplázii, malý vzrůst, krátké čtvrté metatarzy a mentální retardaci | |
| uk | Синдром прогресуючої спондилоепіметафізарної дисплазії-низькорослості-коротких четвертих плеснових кісток-інтелектуальної недостатності | |
| zh | 进行性脊椎干骺端发育不全-身材矮小-第四跖骨短-智力障碍综合征 | |
| tr | İlerleyici spondiloepimetafizyal displazi-kısa boy-kısa dördüncü metatarsal-zihinsel yetersizlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616723 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | attributed | validated |
| MONDO | 0014748 | E | validated | |
| UMLS | C5568882 | 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 (5):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RSPRY1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:29420 | ENSG00000159579 | 616585 | 16q13 | ring finger and SPRY domain containing 1 | 26365341[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 26365341[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26365341[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
73 annotations · validated 2019-12-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000598 | Abnormality of the ear | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0002815 | Abnormality of the knee | |
| HP:0000729 | Autistic behavior | |
| HP:0001156 | Brachydactyly | |
| HP:0001498 | Carpal bone hypoplasia | |
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0001363 | Craniosynostosis | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000286 | Epicanthus | |
| HP:0002007 | Frontal bossing | |
| HP:0001288 | Gait disturbance | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000272 | Malar flattening | |
| HP:0001270 | Motor delay | |
| HP:0000938 | Osteopenia | |
| HP:0001845 | Overlapping toe | |
| HP:0000926 | Platyspondyly | |
| HP:0000520 | Proptosis | |
| HP:0100864 | Short femoral neck | |
| HP:0004689 | Short fourth metatarsal | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0002651 | Spondyloepimetaphyseal dysplasia | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0012471 | Thick vermilion border | |
| Frequent (79-30%) | ||
| HP:0000766 | Abnormal sternum morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0004568 | Beaking of vertebral bodies | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002812 | Coxa vara | |
| HP:0002967 | Cubitus valgus | |
| HP:0003521 | Disproportionate short-trunk short stature | |
| HP:0005096 | Distal femoral bowing | |
| HP:0030293 | Fibular metaphyseal irregularity | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002857 | Genu valgum | |
| HP:0005639 | Hyperextensible hand joints | |
| HP:0003307 | Hyperlordosis | |
| HP:0040261 | Increased size of nasopharyngeal adenoids | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0003275 | Narrow pelvis bone | |
| HP:0001763 | Pes planus | |
| HP:0012428 | Prominent calcaneus | |
| HP:0006461 | Proximal femoral epiphysiolysis | |
| HP:0001838 | Rocker bottom foot | |
| HP:0006863 | Severe expressive language delay | |
| HP:0003026 | Short long bone | |
| HP:0010049 | Short metacarpal | |
| HP:0004279 | Short palm | |
| HP:0003100 | Slender long bone | |
| HP:0010585 | Small epiphyses | |
| HP:0002944 | Thoracolumbar scoliosis | |
| HP:0030292 | Tibial metaphyseal irregularity | |
| Occasional (29-5%) | ||
| HP:0008812 | Flattened femoral head | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001377 | Limited elbow extension | |
| HP:0001653 | Mitral regurgitation | |
| HP:0030427 | Ossifying fibroma of the jaw | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001655 | Patent foramen ovale | |
| HP:0001761 | Pes cavus | |
| HP:0002677 | Small foramen magnum | |
| HP:0000486 | Strabismus | |
| HP:0004592 | Thoracic platyspondyly | |
| HP:0001863 | Toe clinodactyly | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 30063090[PMID]_26365341[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/457395
- This record as JSON: /data/d/457395.json