Case presentation The case is an Iranian 5-year old girl who had been admitted for orthopedic surgery. [bmcmusculoskeletdisord.biomedcentral.com]

Formal hearing examination if cleft palate is present. Consultation with a clinical geneticist and/or genetic counselor. [rarediseases.org]

An atypical presentation of a male with oral-facial-digital syndrome type I related ciliopathy. Case Rep Nephrol. 2016;2016:3181676. http://dx.doi.org/10.1155/2016/3181676. PMid:27651963. 9 Satir P, Pedersen LB, Christensen ST. [autopsyandcasereports.org]

Thurston syndrome: an uncommon disorder presenting with common abnormalities. J Craniofac Surg 2013;24:e132-4. PMID 23524810 69 Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the cerebellar vermis. Neurology 1969;19:813-25. [medlink.com]

• Developmental Disorder

  Orofacial digital syndrome (OFDS) is a rare congenital disorder characterized by a range of clinical anomalies, such as malformations of the oral cavity including mouth, tongue, and teeth as well as developmental disorder of the face, head, nose, eyes [bmcmusculoskeletdisord.biomedcentral.com]

• Alopecia

  The congenital absence of central incisors is a frequent feature of Mohr syndrome, whereas alar hypoplasia, alopecia, and milia are the main characteristics of OFDS type I. [bmcmusculoskeletdisord.biomedcentral.com]

  Face and skin: Eyes set widely apart (hypertelorism), small eyes; eyes looking in different directions (strabismus), a small jaw, a loss of hair (alopecia), abnormalities in the structure of the nostrils; broad nose at the base and/or tip; one nostril [rarediseases.org]

Clinical Testing and Work Up The initial workup for people with OFDS includes: Exam of the face, especially the mouth, and the hands for typical signs and symptoms. Formal, age-appropriate testing of development and behavior. Imaging of the brain. [rarediseases.org]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Surveillance for OFDS types having brain malformations features can include receiving regular brain MRIs. < Previous section Next section > < Previous section Next section > Standard Therapies Treatment Treatment of oral-facial-digital syndrome may involve [rarediseases.org]

Orthodontic treatment of a patient with oral-facial-digital syndrome. Am J Orthod Dentofacial Orthop 2012;141(4 Suppl):S110-8. PMID 22449591 102 Panigrahi I, Das RR, Kulkarni KP, et al. [medlink.com]

Etiology Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified. Visit the Orphanet disease page for more resources. [rareguru.com]

Epidemiology Less than 20 patients (predominantly of Indian origin) have been reported so far. Etiology Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified. [rareguru.com]

Congenital limb deficiency in Japan: a cross-sectional nationwide survey on its epidemiology. BMC Musculoskelet Disord. 2018;19(1):262. [bmcmusculoskeletdisord.biomedcentral.com]

The absence of normally functioning cilia prevents normal cell function in a variety of tissues and organs, accounting for the great phenotypic variation seen in this group of disorders. [news-medical.net]

Mutations in the OFD1 gene prevent cells from making enough functional OFD1 protein, which disrupts the normal development of these structures. [medlineplus.gov]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

It is also characterized by issues in the structure of the epiglottis (flap in the throat that prevents food from entering the windpipe and the lungs while swallowing). [rarediseases.org]