Present case had multiple clinical manifestations with more pronounced oral features with digital and few facial features. Some of these facial features may not be present or may be of different intensities. [ijdr.in]

She presented with typical features of OFD1 which included thin wiry hairs, frontal bossing, depressed nasal bridge and alar hypolplasia [Figure 1]. Thin wiry hairs were also seen in the present case. [jisppd.com]

[…] if the condition was present at the time of inpatient admission. [icd.codes]

A dominant trait is opposed to a recessive trait which is expressed only when two copies of the gene are present. (In genetic terms, a recessive trait is one that is phenotypically expressed only in homozygotes). [healthdictionary.info]

Summary of "Gorlin-Goltz Syndrome: A Rare Syndrome Presenting as an Even Rarer Case with Numerous Features and Complications." [bioportfolio.com]

• Short Stature

  stature, and intellectual disabilities) 759.89 Rud's (mental deficiency, epilepsy, and infantilism) 759.89 Russell (-Silver) (congenital hemihypertrophy and short stature) 759.89 Seckel's 759.89 sick Silver's (congenital hemihypertrophy and short stature [icd9data.com]

  Seizures, precocious puberty, and short stature can be associated. Evaluate tracheal intubation (clinical, radiographs), neurological function (clinical, CT/MRI scans, EEG), and renal function (clinical, echography, laboratory). [accessanesthesiology.mhmedical.com]

  stature, and intellectual disabilities) 759.89 Rud's (mental deficiency, epilepsy, and infantilism) 759.89 Russell (-Silver) (congenital hemihypertrophy and short stature) 759.89 Seckel's 759.89 sick cilia 759.89 Silver's (congenital hemihypertrophy [icdlist.com]

  The short stature in the eldest sibling maybe attributed to familial factors or a severe genetic expression of this condition ( Mohammadian and Khoddam, 2007 ). [scialert.net]

• Feeding Difficulties

  She had required special carebecause of feeding difficulties due to her cleft pal-ate. [docslide.us]

• Dental Caries

  Dental panoramic tomogram confirmed the presence of supernumerary teeth and retained deciduous teeth [Figure 8]. Dental caries was seen with 11,21, 12, 22, 16, 26,36 and 46. [jisppd.com]

  Dental health knowledge, attitude and practice on the occurrence of dental caries among adolescents in a Local Government Area (LGA) of Oyo State, Nigeria. Asian J. Epidemiol., 1: 64-71. CrossRef | Direct Link | Razafindrabe, A.B., V.H. [scialert.net]

• Antimongoloid Slant

  Ocular: Hypertelorism; displaced medial and lateral canthi; antimongoloid slanting of palpebral fissures; exotropia; see-saw winking. [esanatos.com]

• Hearing Impairment

  Children with hearing impairments often require auditory habilitation measures, which may include hearing aids and other technical devices (see below under “Habilitation”). [socialstyrelsen.se]

  Impairment, External Ophthalmoplegia, And Thrombocytopenia OORS 147750 Genetic Test Registry Jackson-Weiss Syndrome Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities JWS 123150 Genetic Test Registry Joubert Syndrome 10 JBTS10 300804 Genetic [ukgtn.nhs.uk]

• Hearing Problem

  Hearing problems have also been described in about 6%. Etiology OFD1 is caused by mutations in the OFD1 gene (Xp22) encoding a protein localized in the centrosome and basal body of primary cilia, which play an important role in development. [orpha.net]

• Median Cleft Lip

  median cleft lip, cleft palate, palatal grooves, alveolar notching, hyperplastic oral frenula, lobulated/bifid tongue, tongue hamartomas, missing incisor teeth, supernumerary teeth, periodontal diseases, malocclusion), digits (brachydactyly, clinodactyly [accessanesthesiology.mhmedical.com]

  The most frequent symptoms are accessory oral frenulum, broad alveolar ridges, frontal bossing, high palate, hypertelorism, lobulated tongue, median cleft lip, and wide nasal bridge. [en.wikipedia.org]

  Hypoplasia of the alae nasi, median cleft lip, or pseudo cleft upper lip are common. Brachydactyly, syndactyly of varying degrees, and clinodactyly of the fifth finger are common. [pocketdentistry.com]

  Median cleft lip Postaxial polydactyly NA Thick hair Fused kidneys TOF VSD Corpus callosum agenesis Moderate intellectual disability. [ciliajournal.biomedcentral.com]

Although mental retardation is a prominent feature of this syndrome, neuroradiologic workup is infrequent. [link.springer.com]

Careful physical and genetic workups are, therefore, necessary. As the delineation of syndromes continues, the classification of this complex condition will evolve. [medlink.com]

Management and treatment Treatment involves cosmetic or reconstructive surgery for cleft lip and/or palate, tongue nodules, and accessory frenulae, removal of accessory teeth, orthodontia for malocclusion, surgery to repair syndactyly, as well as routine [orpha.net]

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]

Please always consult your primary doctor for final diagnosis and treatment. [xmri.com]

Syndrome A grouping of signs and symptoms, based on their frequent co-occurrence, that may suggest a common underlying pathogenesis, course, familial pattern, or treatment selection. [healthdictionary.info]

Treatment takes approximately four hours and most individuals require three treatments a week. [socialstyrelsen.se]

Prognosis Male mortality usually occurs in the first or second trimester of pregnancy. [orpha.net]

Prognosis Prognosis depends on the specific type of OFD syndrome and the symptoms present in the individual. OFD syndrome type I is lethal in males before birth. However, other types of OFD syndrome are found in both males and females. [encyclopedia.com]

In view of the frequency of associated cerebral abnormalities (13%) of OFD syndrome, neuroradiologic evaluation is valuable as a guide to prognosis and therapy for these children. [link.springer.com]

The pregnancy was terminated at 16 weeks of gestation because of poor prognosis. Post‐mortem examination of the fetus confirmed severe hypoplasia of the left ventricle of the heart. [ncbi.nlm.nih.gov]

Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]

Qualifiers English: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology [decs.bvs.br]

Etiology OFD1 is caused by mutations in the OFD1 gene (Xp22) encoding a protein localized in the centrosome and basal body of primary cilia, which play an important role in development. A fraction of cases displays genomic deletions. [orpha.net]

Year introduced: 1979 PubMed search builder options Subheadings: anatomy and histology chemically induced classification complications diagnosis diagnostic imaging drug therapy embryology enzymology epidemiology ethnology etiology genetics history metabolism [ncbi.nlm.nih.gov]

Diagnosis and etiology A woman, 21 years 5 months of age, was referred to our orthodontic clinic with chief complaints of misalignment of her anterior teeth and speech problems. [pocketdentistry.com]

SYNDROME 1964-74 (Prov) Allowable Qualifiers English: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology [decs.bvs.br]

Summary Epidemiology Estimated annual incidence of 1/250,000 to 1/50,000 live births has been reported. Almost all patients are female. Exceptional cases of affected males have been described. [orpha.net]

Year introduced: 1979 PubMed search builder options Subheadings: anatomy and histology chemically induced classification complications diagnosis diagnostic imaging drug therapy embryology enzymology epidemiology ethnology etiology genetics history metabolism [ncbi.nlm.nih.gov]

Case report of a congenital lingual leiomyomatous hamartoma: New epidemiologic findings and a review of the literature. International Journal of Pediatric Otorhinolaryngology, Vol. 76, Issue. 10, p. 1528. CrossRef Google Scholar Kallel, R. [cambridge.org]

Epidemiological and clinical aspects of dental cellulitis in antananarivo. J. Medical Sci., 7: 1108-1111. CrossRef | Direct Link | Sousa, Y.T.S. and D.D. Kanaan, 1994. The oro-facial-digital syndrome-manifestations in the oral cavity: Case report. [scialert.net]

Pathophysiology and medical treatment of pain in fibrous dysplasia of bone. Orphanet J Rare Dis. 2012;7:S3 171 172.  Allanson JE. Noonan Syndrome. [de.slideshare.net]

This is the case report of a 13 year old patient with OFDS type I who reported to the Department of Pedodontics and Preventive Dentistry, with the complaint of discolored upper front teeth. [jisppd.com]

[…] diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PS parasitology PA pathology PP physiopathology PC prevention [decs.bvs.br]

Author Affiliations SEATTLE AND BUCKLEY, WASHINGTON †Instructor in preventive medicine, University of Washington School of Medicine; formerly, resident in pediatrics, University Hospital. ‡Director of laboratories, Rainier School. [nejm.org]

Regular appointments with an ear-nose-throat specialist are recommended to prevent persistent ear problems. [socialstyrelsen.se]