Lacrimoauriculodentodigital syndrome 1

Preferred Label : Lacrimoauriculodentodigital syndrome 1;

Symbol : LADD1;

CISMeF acronym : LADD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Levy-hollister syndrome; Ladd syndrome; Ladd1 syndrome; Lacrimoauriculodentodigital syndrome; LADD;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor 10 gene (FGF10, 602115.0003); Caused by mutation in the fibroblast growth factor receptor 2 gene (FGFR2, 176943.0035); Caused by mutation in the fibroblast growth factor receptor 3 gene (FGFR3, 134934.0028);

Prefixed ID : #149730;

Details

Origin ID

149730;

UMLS CUI

C0265269;

Automatic exact mappings (from CISMeF team)
- Congenital duodenal obstruction due to malrotation of intestine (disorder) [SNOMED CT concept]
- Lacrimo-auriculo-dento-digital syndrome [ICD-11 More detail]
- Levy-Hollister syndrome (disorder) [SNOMED CT concept]
- levy-hollister syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- LADD syndrome [DO Concept]
- LADD syndrome [PASCAL descriptor]
- Lacrimoauriculodentodigital syndrome [MeSH concept]
- Lacrimoauriculodentodigital syndrome [ORDO Disease]
- lacrimoauriculodentodigital syndrome [MeSH Supplementary Concept]
DO Cross reference
- LADD syndrome [DO Concept]
Genes related to phenotype
- Fibroblast growth factor receptor 2 [OMIM gene]
HPO term(s)
- 2-3 finger syndactyly [HPO term]
- Absence of Stensen duct [HPO term]
- Absent lacrimal punctum [HPO term]
- Absent proximal phalanx of thumb [HPO term]
- Absent radius [HPO term]
- Alacrima [HPO term]
- Aplasia of the parotid gland [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral triphalangeal thumbs [HPO term]
- Broad forehead [HPO term]
- Broad hallux [HPO term]
- Carious teeth [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Clinodactyly, 3,5 finger [HPO term]
- Conical incisor [HPO term]
- Corneal perforation [HPO term]
- Coronal hypospadias [HPO term]
- Cupped ear [HPO term]
- Dacryocystitis [HPO term]
- Delayed eruption of primary teeth [HPO term]
- Downslanted palpebral fissures [HPO term]
- Enamel hypoplasia [HPO term]
- Hyperextensible skin [HPO term]
- Hypertelorism [HPO term]
- Hypodontia [HPO term]
- Hypoplasia of the lacrimal punctum [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the ulna [HPO term]
- Hypoplastic lacrimal duct [HPO term]
- Lacrimal gland aplasia [HPO term]
- Lacrimal gland hypoplasia [HPO term]
- Limbal stem cell deficiency [HPO term]
- Mixed hearing impairment [HPO term]
- Nasolacrimal duct obstruction [HPO term]
- Nephrosclerosis [HPO term]
- Partial duplication of thumb phalanx [HPO term]
- Periorbital fullness [HPO term]
- Preaxial polydactyly [HPO term]
- Radial deviation of the 3rd finger [HPO term]
- Recurrent corneal erosions [HPO term]
- Renal agenesis [HPO term]
- Simple, cup-shaped ears [HPO term]
- Small thenar eminence [HPO term]
- Telecanthus [HPO term]
- Xerostomia [HPO term]
ORDO concept(s)
- Lacrimoauriculodentodigital syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- LADD syndrome [PASCAL descriptor]
- LADD syndrome [DO Concept]
- LADD syndrome [MedDRA LLT]
- Lacrimo-auriculo-dento-digital syndrome [MedDRA Preferred Term]
- Lacrimoauriculodentodigital syndrome [MeSH concept]
- Lacrimoauriculodentodigital syndrome [ORDO Disease]
- Levy-Hollister syndrome (disorder) [SNOMED CT concept]
- lacrimoauriculodentodigital syndrome [MeSH Supplementary Concept]
- levy-hollister syndrome [SNOMED Notion]

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