Lacrimoauriculodentodigital syndrome 2
- Synonyms
- FGFR3-Related Lacrimo-Auriculo-Dento-Digital Syndrome; LADD SYNDROME 2
Summary
Genes See tests for all associated and related genes
Also known as: ACH, CD333, CEK2, HSFGFR3EX, JTK4, FGFR3
Summary: fibroblast growth factor receptor 3
Clinical features
Help- Abnormality of head or neck
- Absent lacrimal punctum
Absent lacrimal punctum
- MedGen UID: 356683
- Concept ID: C1867060
- Finding: Disease or Syndrome
Abnormality of head or neck
- Carious teeth
Carious teeth
- MedGen UID: 8288
- Concept ID: C0011334
- Finding: Disease or Syndrome
Abnormality of head or neck
- Conical tooth
Conical tooth
- MedGen UID: 82730
- Concept ID: C0266037
- Finding: Congenital Abnormality
Abnormality of head or neck
- Lacrimal duct aplasia
Lacrimal duct aplasia
- MedGen UID: 870330
- Concept ID: C4024773
- Finding: Congenital Abnormality
Abnormality of head or neck
- Lacrimal duct atresia
Lacrimal duct atresia
- MedGen UID: 576318
- Concept ID: C0344511
- Finding: Congenital Abnormality
Abnormality of head or neck
- Microdontia
Microdontia
- MedGen UID: 66008
- Concept ID: C0240340
- Finding: Congenital Abnormality
Abnormality of head or neck
- Partial congenital absence of teeth
Partial congenital absence of teeth
- MedGen UID: 43794
- Concept ID: C0020608
- Finding: Congenital Abnormality
Abnormality of head or neck
- Absent lacrimal punctum
- Abnormality of limbs
- Duplication of thumb phalanx
Duplication of thumb phalanx
- MedGen UID: 892306
- Concept ID: C4021370
- Finding: Anatomical Abnormality
Abnormality of limbs
- Thumb deformity
Thumb deformity
- MedGen UID: 107901
- Concept ID: C0575897
- Finding: Finding
Abnormality of limbs
- Duplication of thumb phalanx
- Abnormality of the eye
- Alacrima
Alacrima
- MedGen UID: 87488
- Concept ID: C0344505
- Finding: Disease or Syndrome
Abnormality of the eye
- Alacrima
- Abnormality of the immune system
- Conjunctivitis
Conjunctivitis
- MedGen UID: 1093
- Concept ID: C0009763
- Finding: Disease or Syndrome
Abnormality of the immune system
- Conjunctivitis
- Ear malformation
- Cupped ear
Cupped ear
- MedGen UID: 335186
- Concept ID: C1845447
- Finding: Congenital Abnormality
Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Microtia
Microtia
- MedGen UID: 57535
- Concept ID: C0152423
- Finding: Congenital Abnormality
Ear malformation
- Cupped ear
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.