Lamb-Shaffer syndrome
Synonyms: SOX5 haploinsufficiency syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
A rare genetic syndromic intellectual disability characterized by global developmental delay and speech delay, variable degrees of intellectual disability, and dysmorphic facial features (such as frontal bossing, epicanthal folds, strabismus, depressed nasal bridge, short philtrum, auricular abnormalities, micrognathia, or crowded teeth, among others). Additional reported manifestations are behavioral problems (stereotypies, aggression, anxiety, autism spectrum disorder), skeletal anomalies (scoliosis, pectus carinatum, clinodactyly of fingers and toes, among others), and seizures.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lamb-Shaffer syndrome | SOX5 haploinsufficiency syndrome |
| fr | Syndrome de Lamb-Shaffer | Syndrome par haploinsuffisance de SOX5 |
| de | Lamb-Shaffer-Syndrom | SOX5 Haploinsuffizienz-Syndrom |
| es | Síndrome de Lamb-Shaffer | Síndrome de haploinsuficiencia de SOX5 |
| it | Sindrome di Lamb-Shaffer | |
| nl | Syndroom van Lamb-Shaffer | Syndroom door SOX5-haploinsufficiëntie |
| pt | Síndrome Lamb-Shaffer | |
| pl | Zespół Lamba i Shaffer | Zespół haploinsuficjencji SOX5 |
| cs | Lambův-Shafferové syndrom | Syndrom haploinsuficience SOX5 · Lamb-Shafferové syndrom |
| uk | Синдром Ламба-Шаффера | Синдром гаплонедостатності SOX5 |
| zh | Lamb - Shaffer综合征 | SOX5单倍剂量不足 |
| tr | Lamb-Shaffer sendromu | SOX5 haployetersizlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616803 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014778 | E | validated | |
| UMLS | C4225202 | 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: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
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| SOX5 | ORPHA:313892Developmental and speech delay due to SOX5 deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:11201 | ENSG00000134532 | 604975 | 12p12.1 | SRY-box transcription factor 5 | 22290657[PMID] |
| SOX5 | ORPHA:31388412p12.1 microdeletion syndrome | Role in the phenotype of | Assessed | HGNC:11201 | ENSG00000134532 | 604975 | 12p12.1 | SRY-box transcription factor 5 | 22290657[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 70 cases | Worldwide | Case(s) | Validated | 29477873[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29477873[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
34 annotations · validated 2020-08-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0031936 | Delayed ability to walk | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001328 | Specific learning disability | |
| Frequent (79-30%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001252 | Hypotonia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0012433 | Abnormal social behavior | |
| HP:0025160 | Abnormal temper tantrums | |
| HP:0001251 | Ataxia | |
| HP:0000729 | Autistic behavior | |
| HP:0000455 | Broad nasal tip | |
| HP:0040195 | Decreased head circumference | |
| HP:0000286 | Epicanthus | |
| HP:0011968 | Feeding difficulties | |
| HP:0002949 | Fused cervical vertebrae | |
| HP:0000752 | Hyperactivity | |
| HP:0000276 | Long face | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0001530 | Mild postnatal growth retardation | |
| HP:0000648 | Optic atrophy | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000331 | Short chin | |
| HP:0012471 | Thick vermilion border | |
| HP:0002493 | Upper motor neuron dysfunction | |
| Very rare (<4-1%) | ||
| HP:0000646 | Amblyopia | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0001385 | Hip dysplasia | |
| HP:0002942 | Thoracic kyphosis | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 29477873[PMID]_31578471[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/530983
- This record as JSON: /data/d/530983.json