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]

Butterworth-Heinemann, ١١‏/٠٩‏/٢٠١٣ - 224 من الصفحات Oral Manifestations of Inherited Disorders focuses on inherited systemic disorders presenting oral manifestations that have been reported as an integral part of the disorder. [books.google.com]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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]

• 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]

• Broad Thumb

  thumb, preaxial or postaxial polydactyly), involvement of the CNS in about 50% including brain abnormalities (intracerebral cysts, corpus callosum agenesis, cerebellar agenesis with or without Dandy-Walker malformation) and mild to moderate intellectual [orpha.net]

  Thumb And Toes Ankylosis Of Stapes, Hyperopia, Broad Thumbs, Broad First Toes, And Syndactyly Stapes Ankylosis Syndrome Without Symphalangism Teunissen-Cremers Syndrome 184460 Genetic Test Registry Stickler Syndrome, Type I Arthroophthalmopathy, Hereditary [ukgtn.nhs.uk]

  Rubinstein–Taybi syndrome (Broad thumb-hallux syndrome, Rubinstein syndrome)  Michail, Matsoukas and Theodorou: 1957, case  Jack Herbert Rubinstein and Hooshang Taybi: 1963, case series  Incidence: 1 per 125000  Inheritance: AD  Mutation: CREBBP, [de.slideshare.net]

• Feeding Difficulties

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

• Dental Caries

  Dental caries process. Dent Clin N Am 1998;43: 635-64. [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9] [jisppd.com]

  Investigation of dental caries prevalence among 6-12 year old elementary school children in Andimeshk, Iran. J. Med. Sci., 7: 116-120.CrossRef Direct Link Ogundele, B.O. and S.E. Ogunsile, 2008. [scialert.net]

  Dental caries and salivary immunoglobulin A in Down syndrome children. J Paediatr Child Health. 2004 Sep-Oct;40(9-10):530-3 175 176. [de.slideshare.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]

• Median Cleft Lip

  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, syndactyly [accessanesthesiology.mhmedical.com]

  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]

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

• Amenorrhea

  Persistent postpartum amenorrhea - galactorrhea syndrome 持久性產后閉經 [dict.site]

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]

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

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]

The present article highlights the clinical as well as the radiographic findings and the treatment that was done of a 10-year-old girl child diagnosed with OFD I. [jisppd.com]

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]

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]

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]

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]

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

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. Braz. [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]

[…] 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]

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]

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]