Multiple benign circumferential skin creases on limbs
Synonyms: CCSF · Circumferential skin creases, Kunze type · Congenital circumferential skin folds · Kunze-Riehm syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. The creases often improve spontaneously in childhood. Patients also exhibit variable degrees of intellectual disability, short stature, cleft palate, and facial dysmorphism (including epicanthal folds, microphthalmia, broad nasal bridge, low-set, posteriorly rotated ears, and microstomia, among others). Variable additional features have been reported, such as seizures, infantile hypotonia, hearing impairment, strabismus, and urogenital anomalies. Brain imaging may show hypoplastic corpus callosum or mildly dilated ventricles.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple benign circumferential skin creases on limbs | CCSF · Circumferential skin creases, Kunze type · Congenital circumferential skin folds · Kunze-Riehm syndrome |
| fr | Plis circulaires bénins multiples de la peau des membres | CCSF · Plis circonférentiels congénitaux de la peau · Syndrome de Kunze-Riehm |
| de | Multiple benigne ringförmige Hautfalten der Extremitäten | CCSF · Hautfalten, ringförmige, Typ Kunze · Kongenitale ringförmige Hautfalten · Kunze-Riehm-Syndrom |
| es | Pliegues circulares benignos múltiples de la piel de las extremidades | CCSF · Pliegues circulares de la piel congénitos · Pliegues circulares de la piel tipo Kunze · Síndrome de Kunze-Riehm |
| it | Pliche cutanee circonferenziali benigne multiple sugli arti | CCSF · MTBS · Pieghe cutanee circonferenziali congenite · Sindrome del bambino Michelin · Sindrome di Kunze-Riehm |
| nl | Meervoudige goedaardige circumferentiële huidplooien op ledematen | CCSF · Circumferentiële huidplooien, Kunze-type · Congenitale circumferentiële huidplooien · Syndroom van Kunze-Riehm |
| pt | Pregas cutâneas circunferenciais benignas múltiplas dos membros | Pregas cutâneas circunferenciais congénitas · Pregas cutâneas circunferenciais, tipo Kunze · Síndrome Kunze-Riehm · Síndrome bebé Michelin |
| pl | Mnogie łagodne bruzdy-obręcze na kończynach | CCSF · Zespół Kunze'a i Riehma · Wrodzone obwodowe fałdy skórne |
| cs | Mnohočetné benigní obvodové rýhy na končetinách | CCSF · MTBS · Vrozené obvodové záhyby kůže · Kunzeho-Riehmův syndrom · Syndrom dítěte podobného pneumatice Michelin · Kunze-Riehmův syndrom |
| uk | Множинні доброякісні окружні складки шкіри на кінцівках | CCSF · Циркулярні складки шкіри, тип Кунце · Вроджені циркулярні складки шкіри · Синдром Кунце-Ріма |
| zh | 四肢多发性良性圆周形皮纹 | 环形皮肤皱襞，Kunze型 |
| tr | Ekstremitelerde çoklu selim çevresel cilt kırışıklıkları | CCSF · Kunze-Riehm sendromu · Doğumsal çevresel deri kıvrımları · Çevresel cilt kırışıklıkları, Kunze tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 156610 | E | validated | |
| OMIM | 616734 | BTNT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0007990 | E | validated | |
| MeSH | C537575 | E | validated | |
| UMLS | C0473586 | E | validated | |
| GARD | 3589 | 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:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:79385Unclassified genetic skin disorder
rare genetic diseases; rare skin diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAPRE2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6891 | ENSG00000166974 | 605789 | 18q12.1-q12.2 | microtubule associated protein RP/EB family member 2 | 26637975[PMID] |
| TUBB | Disease-causing germline mutation(s) in | Assessed | HGNC:20778 | ENSG00000196230 | 191130 | 6p21.33 | tubulin beta class I | 26637975[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 32 cases | Worldwide | Case(s) | Validated | 29696100[PMID]_39583440[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29696100[PMID]_39583440[PMID]_ORPHANET |
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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000969 | Edema | |
| HP:0007522 | Increased number of skin folds | |
| HP:0001072 | Thickened skin | |
| Frequent (79-30%) | ||
| HP:0000175 | Cleft palate | |
| HP:0007400 | Irregular hyperpigmentation | |
| Occasional (29-5%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000271 | Abnormality of the face | |
| HP:0003011 | Abnormality of the musculature | |
| HP:0000045 | Abnormality of the scrotum | |
| HP:0001635 | Congestive heart failure | |
| HP:0000028 | Cryptorchidism | |
| HP:0000286 | Epicanthus | |
| HP:0002230 | Generalized hirsutism | |
| HP:0001263 | Global developmental delay | |
| HP:0000047 | Hypospadias | |
| HP:0000023 | Inguinal hernia | |
| HP:0001249 | Intellectual disability | |
| HP:0006768 | Localized neuroblastoma | |
| HP:0000343 | Long philtrum | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0000252 | Microcephaly | |
| HP:0000482 | Microcornea | |
| HP:0000347 | Micrognathia | |
| HP:0000568 | Microphthalmia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000488 | Retinopathy | |
| HP:0004322 | Short stature | |
| HP:0000046 | Small scrotum | |
| HP:0001537 | Umbilical hernia | |
| HP:0100560 | Upper limb asymmetry | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2505
- This record as JSON: /data/d/2505.json