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]

All the members of the current report presented with bifid tongue and the 2 elder siblings presenting with characteristic nodular swellings on the tongue surface. [scialert.net]

• 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]

  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]

  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]

  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]

• Pain

  Imaging Findings Ultrasonography of the entire abdomen was done and cholelithiasis was found to be the cause of pain. [eurorad.org]

  Evaluation of the Muscular FORCE in the Upper Limbs of Patients Presenting a Thoracic Outlet Syndrome The thoracic outlet syndrome is a rare but debilitating pathology, responsible for upper limb pain. [bioportfolio.com]

  Pain is referred to a location distant from the trigger points. [kmle.co.kr]

  In some cases, the rash, including painful blisters, may also affect the mouth, soft palate, and top portion of the throat ringing in the ear (tinnitus) and ear pain (otalgia)., transient hearing loss Hurler-Scheie Syndrome (MPS IH/S), accumulation of [de.slideshare.net]

  […] kidney disease in adulthood. [9] A 10-year-old female patient reported to Department of Pedodontics and Preventive Dentistry, Himachal Dental College, Sundernagar, Himachal Pradesh, India, for the correction of forwardly placed upper front teeth and pain [jisppd.com]

• Swelling

  The eldest sibling also complained of an enlarged tongue with noticeable swellings claimed to have increased in size since birth ( Fig. 1c ). [scialert.net]

  Gingival polyp Gingival swelling Gingivitis Gingko biloba Ginkgo biloba see Gingko biloba Gitelman syndrome GK1 deficiency see Glycerol kinase deficiency Glafenine Glanders Glandular cheilitis see Cheilitis glandularis Glandular fever see Infectious [diseasesdatabase.com]

• Weakness

  Mandible no root, 2. maxilla mandible no root, 3. mandible root resorption, 4. mandible maxilla root resop, 5. max, mand, coronoid, condyle, 6. max mand orbit DD: turners syndrome Captopril 25 mg daily weak or feel stiff and may result in the inability [de.slideshare.net]

• Malocclusion

  Manifestations include oral malformations in >95% (lobed tongue, tongue hamartomas or lipomas, ankyloglossia, cleft or highly arched palate, accessory gingival frenulae, missing (hypodontia, see this term) or extra teeth, enamel dysplasia, and malocclusion [orpha.net]

  […] cartilage, broad nasal root, short upper 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 [accessanesthesiology.mhmedical.com]

  The intraoral examination showed that she had dental Class I malocclusion on both sides with unilateral posterior cross bite; moderate anterior crowding in upper and lower jaw, and retained deciduous upper right canine. [njcponline.com]

• Dental Caries

  Dental caries process. Dent Clin N Am 1998;43: 635-64. [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]

• Anterior Open Bite

  Figure 5: Intra-oral examination revealed that the patient had an anterior open bite, v-shaped maxillary arch, hyperplastic frenum attachments, two conical shaped teeth in the space of missing 11, 21, and one conical supernumerary tooth in the space between [jisppd.com]

  open bite were the striking features. [scialert.net]

• Strabismus

  At the age of 4, 5 and 8 years, she had been operated for correction of strabismus, release of syndactility of fingers, correction of bilateral epicanthal fold with upper lip lengthening and augmentation. [jisppd.com]

  It is characterized by the presence of distinctive facial features (small mouth, midface hypoplasia, short nose, drooping of the eyelids, deep folds in the area between the nose and the lips, and strabismus), joint deformities that lead to permanently [icd10data.com]

• Partial Alopecia

  Dry and brittle hair, usually accompanied by partial alopecia in OFD1 syndrome ( Del et al ., 1999 ) was noticed in the eldest sibling of the 3rd generation in this report. [scialert.net]

• 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]

• Suggestibility

  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]

  Continuing studies suggest that these mutations may be responsible for polydactyly, hypothalamic hamartoma, and other defects, but not tongue hamartomas (Romani et al 2015). [medlink.com]

  Linguofacial Dysplasia of Grob; Gorlin Syndrome; Dysplasia Linguofacialis; OFD Syndrome; Oro-Digital-Facial Dysostosis; Grob Linguofacial Dysplasia) General: Familial with strong female preponderance; transmitted as a dominant; partial trisomy has been suggested [esanatos.com]

  This suggests that this syndrome may fall into a broad category of ciliary diseases. The ciliary organelles are present in many cellular types throughout the human body. [en.wikipedia.org]

• Median Cleft Lip

  Median cleft lip, polydactyly, syndactyly and toe anomalies in a non-Indian infant. British Journal of Plastic Surgery. 1983; 36: 447 Google Scholar Gopalakrishna A. Thatte R.L. [jprasurg.com]

  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]

• Burning Sensation

  A burning sensation on having hot and spicy food and pain upon palpating the swollen areas was also reported. [scialert.net]

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]

This requires careful imaging and other workup as aqueduct stenosis symptoms in the following paragraphs ; 39 ( 12 ):918-31 as. [mail.urbanlifelourdes.com.br]

Poonam Sawant examined the patient, assisted in the diagnostic workup, assisted in the histopathological and clinical diagnosis and assisted in the initial manuscript. [redalyc.org]

• Polyps

  […] see Gastrointestinal polyps Giaccai type acroosteolysis see Hereditary sensory and autonomic neuropathy type 2 Gianotti-Crosti syndrome see Infantile papular acrodermatitis Giant axonal neuropathy Giant cell arteritis see Temporal arteritis Giant cell [diseasesdatabase.com]

  Diagnosis: Intestinal polyps, Melanin spots, positive family history (2 of 3) Molecular genetics 63 64. [de.slideshare.net]

  All the permanent 1st molars were grossly decayed with pulpal involvement in the 9 year old sibling, with a huge pulp polyp in molar necessitating its extraction. [scialert.net]

Treatment includes correction of craniofacial, digital abnormaliities surgically and counselling to cope with learning disabilities. [3] The treatment targets on improving the patient's confidence to live a near normal life. [eurorad.org]

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

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 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]

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]

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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

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]

Pathophysiology Caused by mutations in the CXORF5 gene mapped on Xp22.3-p22.2. It is tough that the OFD1 protein regulates the formation, length and organization of the centrosome of primary cilia. [accessanesthesiology.mhmedical.com]

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]