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

Official abbreviation LADD
Name syndrome, LADD (lacrimoauriculodentodigital, Levy-Hollister)
OMIM ID 149730
Human Phenotype Ontology Project (HPO) HPO
Inheritance AD
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 3 genes FGF10, FGFR2, FGFR3
Associated tissues -
Disease features -
Remarks -


Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00332561 LADD-IstPatIII4 PubMed: Rohmann 2006 4-generation family, 7 affected (3F, 4M) F;M - Turkey - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - 0 - - 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 - - 0 - - 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 - - 0 - - LADD see paper; ... FGF10 FGF10 1 1 Johan den Dunnen
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