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1.

Oculodentodigital dysplasia

Oculodentodigital syndrome is characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding (summary by Judisch et al., 1979). Neurologic abnormalities are sometimes associated (Gutmann et al., 1991), and lymphedema has been reported in some patients with ODDD (Brice et al., 2013). See review by De Bock et al. (2013). Genetic Heterogeneity of Oculodentodigital Syndrome An autosomal recessive form of ODDD (257850) is also caused by mutation in the GJA1 gene, but the majority of cases are autosomal dominant. [from OMIM]

MedGen UID:
167236
Concept ID:
C0812437
Congenital Abnormality
2.

Error occurred: cannot get document summary

ID:
449867

3.

Error occurred: cannot get document summary

ID:
449688

4.

Dysplasia

Cells that look abnormal under a microscope but are not cancer. [from NCI]

MedGen UID:
87191
Concept ID:
C0334044
Pathologic Function
5.

Spastic tetraparesis

Spastic weakness affecting all four limbs. [from HPO]

MedGen UID:
504787
Concept ID:
CN001177
Finding
6.

Progressive spastic paraparesis

MedGen UID:
488935
Concept ID:
C0747251
Sign or Symptom

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