Absence of fingerprints-congenital milia syndrome
Synonyms: Absence of dermatoglyphics-congenital milia syndrome · Baird syndrome · Basan-Baird syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Absence of fingerprints-congenital milia syndrome | Absence of dermatoglyphics-congenital milia syndrome · Baird syndrome · Basan-Baird syndrome |
| fr | Syndrome d'absence de dermatoglyphes-miliaire congénital | Syndrome de Baird · Syndrome de Basan-Baird |
| de | Fehlende Dermatoglyphen-kongenitale Milien-Syndrom | Baird-Syndrom |
| es | Síndrome de ausencia de dermatoglifos-miliar congénita | |
| it | Assenza delle impronte digitali - milia congenita | Assenza dei dermatoglifi - milia congenita · Sindrome di Baird |
| nl | Afwezigheid van dermatoglyfen - congenitale milia-syndroom | Syndroom van Basan-Baird · Afwezigheid van vingerafdrukken - aangeboren gerstekorrels-syndroom · Syndroom van Baird |
| pt | Síndrome de ausência de impressões digitais-milia congénita | Ausência de dermatoglifos-milia congénita · Síndrome Baird |
| pl | Brak odcisków palców - prosaki wrodzone | Brak dermatoglifów - prosaki wrodzone · Zespół Bairda |
| cs | Syndrom zahrnující absenci dermatoglyfů a vrozená mília | Syndrom zahrnující absenci otisků prstů a vrozená mília · Bairdův syndrom |
| uk | Синдром відсутності відбитків пальців - вроджених мілій | Відсутність дерматогліфічного синдрому - вродженої мілії · Синдром Берда · Синдром Басана-Бейрда |
| zh | 指纹缺失-先天性粟粒疹综合征 | 指纹缺失-先天性粟粒疹综合征 |
| tr | Parmak izi yokluğu-Doğumsal milia sendromu | Baird sendromu · Basan-Baird sendromu · Dermatoglifik-doğumsal milia sendromunun yokluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 129200 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0007507 | E | validated | |
| UMLS | C4304581 | E | validated | |
| GARD | 2336 | 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:79359Other epidermal disorder
rare skin diseases - ORPHA:79360Other genetic epidermal disease
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1235OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SMARCAD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:18398 | ENSG00000163104 | 612761 | 4q22.3 | SNF2 related chromatin remodeling ATPase with DExD box 1 | 26932190[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 families | Worldwide | Family(ies) | Validated | 26932190[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26932190[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
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0001056 | Milia | |
| HP:0000963 | Thin skin | |
| Frequent (79-30%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0000966 | Hypohidrosis | |
| HP:0000988 | Skin rash | |
| HP:0001072 | Thickened skin | |
| Occasional (29-5%) | ||
| HP:0009775 | Amniotic constriction ring | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1658
- This record as JSON: /data/d/1658.json