RIN2 syndrome
Synonyms: MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome · RIN2 deficiency · Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | RIN2 syndrome | MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome · RIN2 deficiency · Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome |
| fr | Syndrome RIN2 | Déficit en RIN2 · Syndrome MACS · Syndrome de macrocéphalie-alopécie-cutis laxa-scoliose |
| de | RIN2-Syndrom | Hohe Stirn-Spärliches Haar-Überdehnbarkeit der Haut-Skoliose-Syndrom · MACS-Syndrom · Makrozephalie-Alopezie-Cutis laxa-Skoliose-Syndrom · RIN2-Mangel |
| es | Síndrome RIN2 | Deficiencia de RIN2 · Síndrome MACS · Síndrome de frente alta-cabello escaso-hiperextensibilidad de la piel-escoliosis · Síndrome de macrocefalia-alopecia-cutis laxa-escoliosis |
| it | Sindrome RIN2 | Deficit di RIN2 · Sindrome MACS · Sindrome fronte alta-capelli radi-cute iperestensibile-scoliosi · Sindrome macrocefalia-alopecia-cutis laxa-scoliosi |
| nl | RIN2-syndroom | Hoog voorhoofd - dun haar - hyperextensibiliteit van de huid - scoliose-syndroom · MACS-syndroom · Macrocefalie - alopecie - cutis laxa - scoliose-syndroom · RIN2-deficiëntie |
| pt | Síndrome de MACS | |
| pl | Zespół RIN2 | Niedobór RIN2 · Zespół MACS · Zespół makrocefalii, łysienia, luźnej skóry i skoliozy |
| cs | RIN2 syndrom | MACS syndrom · Syndrom zahrnující makrocefalii, alopecii, cutis laxa a skoliózu · RIN2 deficit · Syndrom zahrnující vysoké čelo, řídké vlasy, hyperextensibilitu kůže a skoliózu |
| uk | Синдром RIN2 | Синдром макроцефалії - алопеції - cutis laxa - сколіозу · Синдром MACS · Дефіцит RIN2 · Синдром високого лобу - рідкого волосся - надмірної розтяжност шкіри - сколіозу |
| zh | RIN2基因综合征 | 高额头-头发稀疏-皮肤松弛-脊柱侧凸综合征 |
| tr | RIN2 sendromu | MACS sendromu · RIN2 eksikliği · Makrosefali-alopesi-kutis laksa-skolyoz sendromu · Uzun alın-seyrek saç-aşırı esnek deri-skolyoz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613075 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD28.2 | NTBT | index | validated |
| MONDO | 0013115 | E | validated | |
| MeSH | C567770 | E | validated | |
| UMLS | C2751321 | 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:209Cutis laxa
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare surgical thoracic diseases; rare skin 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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RIN2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18750 | ENSG00000132669 | 610222 | 20p11.23 | Ras and Rab interactor 2 | 19631308[PMID]_24449201[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 27277385[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27277385[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 2017-01-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000159 | Abnormal lip morphology | |
| HP:0000280 | Coarse facial features | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000218 | High palate | |
| HP:0001007 | Hirsutism | |
| HP:0000974 | Hyperextensible skin | |
| HP:0011232 | Infra-orbital fold | |
| HP:0040079 | Irregular dentition | |
| HP:0001382 | Joint hypermobility | |
| HP:0000343 | Long philtrum | |
| HP:0001763 | Pes planus | |
| HP:0001582 | Redundant skin | |
| HP:0002650 | Scoliosis | |
| HP:0002209 | Sparse scalp hair | |
| HP:0012724 | Upper eyelid edema | |
| Frequent (79-30%) | ||
| HP:0000766 | Abnormal sternum morphology | |
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0000978 | Bruising susceptibility | |
| HP:0100543 | Cognitive impairment | |
| HP:0001537 | Umbilical hernia | |
| Occasional (29-5%) | ||
| HP:0004942 | Aortic aneurysm | |
| HP:0001156 | Brachydactyly | |
| HP:0000028 | Cryptorchidism | |
| HP:0011003 | High myopia | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0008209 | Premature ovarian insufficiency | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 24449201[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/217335
- This record as JSON: /data/d/217335.json