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

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]

Acronym OFD14 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

The right lung was bilobar and the left lung monolobar; two separate thymus structures were present. Detailed examination of the brain was not possible owing to autolysis. [obgyn.onlinelibrary.wiley.com]

• Nail Abnormality

  The palmar/nail abnormality in the patient was associated with loss of active flexion of the interphalangeal joints. [cags.org.ae]

• High Arched Palate

  High-arch palate which is associated with some congenital syndromes, is a known cause of difficult laryngoscopy. [bmcmusculoskeletdisord.biomedcentral.com]

  (split) gums Thickened atypical frenula including tongue-tied Fewer teeth than usual High arched palate Face Widely spaced eyes Wide bridge of nose Small nostrils Small lower jaw Asymmetry of the face Digits Fingers (50-70%) are affected more commonly [dermnetnz.org]

  Both conditions are reported to show overlapping oral findings including high arch palate, cleft palate, and lobulated tongue with nodules. [hindawi.com]

• Brachydactyly

  Lobulated tongue and brachydactyly were noticed, prompting an OFD1 sequencing analysis. Sequencing revealed a causal four-base-pair deletion in exon 13, both in the patient and in her mother, whose renal function had been retained. [jstage.jst.go.jp]

  She had undergone many surgeries of hands and feet because of syndactyly, brachydactyly, and polydactyly. [hindawi.com]

  10.1055/s-2007-995229 Abstract: Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly [scite.ai]

  Digital anomalies include brachydactyly, syndactyly, clinodactyly, camptodactyly, polydactyly, and hypoplastic thumbs. Less frequently expressed phenotypic anomalies include skin milia, alopecia, deafness and trembling. [cags.org.ae]

  These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually curved (clinodactyly). [ghr.nlm.nih.gov]

• Foot Deformity

  Mirror foot deformity of right foot was corrected through a 94-min surgery. During the operation, the surgeon excised pre and postaxial rays in order to create a suitable foot for wearing shoes. [bmcmusculoskeletdisord.biomedcentral.com]

  The lobulated tongue with hypertrophied frenula, median pseudocleft of the upper lip, and hearing loss are findings characteristic of OFDS type II whereas the tibial dysplasia and club foot deformities are characteristic of OFDS type IV. [hindawi.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]

  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]

• Dry Hair

  Dry hair Wiry hair Diffuse thinning Patchy hair loss Kidney 50% polycystic kidneys Nervous system 40% many manifestations reported mental retardation seizures Other organs Variable involvement Genetics of Orofaciodigital syndrome type 1* *Image courtesy [dermnetnz.org]

• Hypertelorism

  Fetal autopsy showed a male fetus with nuchal edema, scaphocephaly, hypertelorism, micrognathia and a median cleft of the upper lip. There was a cleft of the soft palate including the uvula. [obgyn.onlinelibrary.wiley.com]

  Dysmorphic features affecting the head include hypertelorism, frontal bossing, micrognathia, facial asymmetry and broadened nasal ridge. [cags.org.ae]

  The patient had some typical features of OFDS type II, which can be differentiated from type I and the other types, including high-arch palate, broad nose, hypertelorism, and tongue nodules. [bmcmusculoskeletdisord.biomedcentral.com]

  Distinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism). [ghr.nlm.nih.gov]

• Frontal Bossing

  Dysmorphic features affecting the head include hypertelorism, frontal bossing, micrognathia, facial asymmetry and broadened nasal ridge. [cags.org.ae]

  Autozygosity mapping identified a minimal interval on chromosome 1 in two multiplex families of Arabian origin displaying oral (tongue lobulation, cleft palate, bifid uvula), facial (frontal bossing, midline lip defects), digital (polydactyly) signs accompanied [ciliajournal.biomedcentral.com]

• Broad Nasal Bridge

  She had a broad nasal bridge, root, and tip, protruding ears, and bifid frenula (Figure 2). She had a retrognathic mandible and a severe Angle Class III malocclusion (Figure 3). [hindawi.com]

• Renal Insufficiency

  Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. Clin Genet. 2010 Mar;77(3):258-65. doi: 10.1111/j.1399-0004.2009.01290.x. Epub 2009 Oct 8. Siebert JR. The oral-facial-digital syndromes. [ghr.nlm.nih.gov]

  Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. Clin Genet. 2010 Mar;77(3):258-65. doi: 10.1111/j.1399-0004.2009.01290.x. Epub 2009 Oct 8. Citation on PubMed Siebert JR. [medlineplus.gov]

• Kidney Failure

  For some patients the kidney problems dominate the clinical course, resulting in kidney failure and kidney transplant. See smartphone apps to check your skin. [Sponsored content] References: Cardenas-Rodriguez M, Badano JL. [dermnetnz.org]

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]

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. Article Google Scholar 2. [bmcmusculoskeletdisord.biomedcentral.com]

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