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Hypodontia - dysplasia of nails
1 OMIM reference -
1 associated gene
24 connected diseases
14 signs/symptoms
Disease Type of connection
Oligodontia
Spinocerebellar ataxia type 17
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Alveolar rhabdomyosarcoma
Craniofacial-deafness-hand syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 3
Craniosynostosis, Boston type
Parietal foramina
Parietal foramina with cleidocranial dysplasia
Split hand - split foot - deafness
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Leber congenital amaurosis
X-linked dystonia-parkinsonism
Synonym(s):
- Hypodontia - nail dysgenesis
- Tooth and nail syndrome
- Witkop syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MSX1 P28360142983
Very frequent
- Absent / small fingernails / anonychia of hands
- Absent / small toenails / anonychia of feet
- Anodontia / oligodontia / hypodontia
- Anomalies of teeth and dentition
- Autosomal dominant inheritance
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Nails anomalies
- Thin / hypoplastic toenails
- Tooth shape anomaly

Frequent
- Everted lower lip
- Fine hair

Occasional
- Abnormal / polycystic ovaries