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

Does not have the skin and hair changes of the X-linked OFD Type I but presents with conductive hearing loss. Tachypnea is frequent. [accessanesthesiology.mhmedical.com]

Sometimes the tongue appears forked and there may be nodules present. There may be adhesion between the cheeks and the gums. Congenital heart disease is common and many individuals have periods of rapid breathing. [disorders.eyes.arizona.edu]

This case presented with findings of both OFDS types II and IV. [hindawi.com]

One characteristic that can help differentiate OFDS I from II is that OFDS I presents with milia, or small non-cancerous cysts, on the face and ears. OFDS I only occurs in females. It is inherited in a dominant X-linked pattern. [genome.gov]

• Small Teeth

  OFD Type III (Sugarman Syndrome): Autosomal recessive transmitted disorder; postaxial polydactyly, bulbous nose with extra small teeth; macular red spots associated with myoclonic jerks and/or winking of the jaw and eyelids. [accessanesthesiology.mhmedical.com]

• Ear Fullness

  Fig. 1 Orofacial manifestations of Mohr syndrome including the patient’s face (a), midline lip cleft (b), high-arch palate (b), absence of central incisors (b) and presence of tongue nodule (c) Full size image Fig. 2 Low-set ear Full size image Fig. 3 [bmcmusculoskeletdisord.biomedcentral.com]

• Alopecia

  Less frequently expressed phenotypic anomalies include skin milia, alopecia, deafness and trembling. Some studies have shown that the central nervous system is involved in 50 % of the cases. [cags.org.ae]

  A mosaic pattern of alopecia in the oral-facial-digital syndrome type I (Papillon-Léage and psaume syndrome). Pediatr Dermatol. 1999;16:367–70. [ncbi.nlm.nih.gov]

  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]

• Bulbous Nose

  OFD Type III (Sugarman Syndrome): Autosomal recessive transmitted disorder; postaxial polydactyly, bulbous nose with extra small teeth; macular red spots associated with myoclonic jerks and/or winking of the jaw and eyelids. [accessanesthesiology.mhmedical.com]

Treatment of orofaciodigital syndrome type 1 There is no specific treatment for this syndrome. Treatment is directed at the problems encountered in an individual. [dermnetnz.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

Dental treatments, performed with local anaesthesia, consisted of placement amalgam restorations for the left upper and lower permanent first molars and root canal treatment for the carious right first molar. [hindawi.com]

[…] a 6-Year-Old Girl. 61 Kirzioglu Z...Oz E 29707412 2018 40 A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function. 61 Salpietro V...Houlden H 29127725 2018 41 Successful treatment [malacards.org]

Nothing is known about the prognosis. Most individuals require lifelong monitoring with intervention as needed for breathing difficulties, heart problems, cleft lip and palate, and cosmesis. [disorders.eyes.arizona.edu]

Following counseling regarding the poor prognosis associated with these findings the couple decided to terminate the pregnancy, and the procedure was performed at 12 + 3 weeks' gestation. [obgyn.onlinelibrary.wiley.com]

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

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