U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Mohr syndrome

Mohr syndrome

Synonyms
OFD syndrome 2; OFDS 2; OFDS II; ORAL-FACIAL-DIGITAL SYNDROME, TYPE II; Oral-facial-digital syndrome type 2; Orofaciodigital syndrome 2; Orofaciodigital syndrome II
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Orofaciodigital syndrome II (OFD2), also known as Mohr syndrome, is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly. Mesomelic shortening of the limbs has also been observed (Mohr, 1941; Gorlin, 1982; Monroe et al., 2016). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ALS24, NY-REN-55, OFD2, SRPS2, SRPS2A, SRTD6, NEK1
    Summary: NIMA related kinase 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

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.