Disease #00599 (LADD (LADD syndrome (lacrimoauriculodentodigital, Levy-Hollister)), OMIM:149730)

Official abbreviation LADD
Name LADD syndrome (lacrimoauriculodentodigital, Levy-Hollister)
OMIM ID 149730
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 8
Phenotype entries for this disease 8
Associated with 3 genes FGF10, FGFR2, FGFR3
Associated tissues -
Disease features -
Remarks -


Individuals

8 entries on 1 page. Showing entries 1 - 8.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00332561 LADD-IstPatIII4 PubMed: Rohmann 2006 4-generation family, 7 affected (3F, 4M) F;M - Turkey - - - - - LADD no alacrima, no aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, no conjunctivitis; no cup-shaped ear, no small ears, no hearing loss; no peg-shaped teeth, no microdontia, no hypodontia, no root anomalies, no dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, no first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, facial dysmorphism (high forehead, telecanthus, hypotelorism, downslanting palpebral fissures, prognathia) FGFR2 FGFR2 1 7 Johan den Dunnen
00332562 LADD-NijPatIII4 PubMed: Rohmann 2006 3-generation family, 6 affected (3F, 3M) F;M - Netherlands - - - - - LADD no alacrima, no aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, no conjunctivitis; no cup-shaped ear, no small ears, no hearing loss; no peg-shaped teeth, no microdontia, no hypodontia, no root anomalies, no dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, no first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, no facial dysmorphism FGFR2 FGFR2 1 6 Johan den Dunnen
00332563 LADD-LePatI2 PubMed: Rohmann 2006 3-generation family, 6 affected (5F, M) F;M - England - - - - - LADD no alacrima, no aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, no conjunctivitis; no cup-shaped ear, no small ears, no hearing loss; no peg-shaped teeth, no microdontia, no hypodontia, no root anomalies, no dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, no first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, no facial dysmorphism FGFR2 FGFR2 1 6 Johan den Dunnen
00332564 LADD-BeSpo PubMed: Rohmann 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Belgium - - - - - LADD no alacrima, no aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, no conjunctivitis; no cup-shaped ear, no small ears, no hearing loss; no peg-shaped teeth, no microdontia, no hypodontia, no root anomalies, no dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, no first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, no facial dysmorphism FGFR2 FGFR2 1 1 Johan den Dunnen
00332565 LADD-BoPatIII4 PubMed: Rohmann 2006 3-generation family, 10 affected (5F, 5M) F;M - Germany Turkey - - - - LADD no alacrima, no aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, no conjunctivitis; no cup-shaped ear, no small ears, no hearing loss; no peg-shaped teeth, no microdontia, no hypodontia, no root anomalies, no dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, no first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, no facial dysmorphism FGF10 FGF10 1 10 Johan den Dunnen
00332566 LADD-AlaPatIII4 PubMed: Rohmann 2006 3-generation family, 3 affected (F, 2M) F;M - Turkey - - - - - LADD alacrima, aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, conjunctivitis; cup-shaped ear, small ears, hearing loss; peg-shaped teeth, microdontia, hypodontia, root anomalies, dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, facial dysmorphism (high forehead, telecanthus, hypotelorism, downslanting palpebral fissures, prognathia) FGFR3 FGFR3 1 3 Johan den Dunnen
00332567 patient PubMed: Milunksy 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - LADD see paper; ... FGF10 FGF10 1 1 Johan den Dunnen
00402813 APEC-Patient 4 unpublished Familial case, father (unaffected heterozygous carrier) M no Mexico - - - - none LADD corneal opacity, anophthalmia, neurodevelopmental delay, hipotonia, abnormality of the pinna, severe hearing impairment, atresia of the external auditory canal, conical tooth, syndactyly, small nail. - FGFR2 1 1 Miriam Erandi Reyna-Fabián
Legend   How to query