[…] congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability [malacards.org]

For intellectual disability disorders we offer exome sequencing diagnostics, multiple gene diagnostics, single gene diagnostics and array diagnostics. Below you can find all the intellectual disability disorders we currently offer. [genomediagnosticsnijmegen.nl]

Further, oral manifestations of these diseases are a significant component that adds on to its severity and disability levels. [austinpublishinggroup.com]

Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 0 *Mandibulofacial Dysostosis *Intellectual Disability *Microcephaly. [reference.md]

stature, bilateral hearing loss, and learning disability. [malacards.org]

Fistula (Mmt) Syndrome Microcephaly-Mild Developmental Delay-Short Stature-Distinctive Face Syndrome Microcephaly-Mild Mental Retardation-Short Stature-Skeletal Anomalies Syndrome Microcephaly-Muscular Build-Rhizomelia-Cataracts Syndrome Microcephaly-Oculo-Digito-Esophageal-Duodenal [neo-genetics.com]

stature syndrome Short stature, microcephaly, and endocrine dysfunction Short stature, optic nerve atrophy, and Pelger-Huet anomaly SHORT syndrome Short-rib thoracic dysplasia Shprintzen-Goldberg syndrome Silver-Russell syndrome Skeletal abnormalities [qlinics.com]

Most individuals with disproportionate short stature have skeletal dysplasias, and those with proportionate short stature have endocrine, nutritional, or other genetic or teratogenic disorders, although there are exceptions to this generalization. [nature.com]

Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and [books.google.com]

In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

Affected individuals or parents of affected children should talk to their physicians and medical team about their specific case and associated symptoms. [rarediseases.org]

Contributors Elaine H Zackai, MD Professor of Pediatrics, Professor of Obstetrics and Gynecology, Professor of Pediatrics in Human Genetics, University of Pennsylvania School of Medicine; Director, Clinical Genetics Center, University of Pennsylvania; Senior Physician [emedicine.medscape.com]

Treacher Collins syndrome, 2004, GeneReviews a b c d e f g h i j k l m n o "The Physician's Guide to Treacher Collins Syndrome" (PDF). National Organization for Rare Disorders (NORD). 2012. a b c Posnick, Jeffrey C (1 October 1997). [en.wikipedia.org]

congenital anomalies-hypotonia-seizures syndrome type 1 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Myhre syndrome Native American myopathy Neuroaxonal neurodegeneration, infantile, with facial dysmophism [qlinics.com]

Affected siblings have been described both in cases of the isolated primary form, and occasionally in various genetic multiple congenital anomalies. Male predominance in the primary form is reported, but data are not entirely convincing. [ojrd.biomedcentral.com]

single occurrences in a family) mainly from Europe and about 70 Neonatal, childhood and rarely adult onset Granulomatous disease CYBA, NCF2, NCF4, CYBB Severe recurrent bacterial and fungal infections, granuloma formation (pneumonia, lymphadenitis, [centogene.com]

Otitis media as a result of eustachian tube dysfunction results in deafness, usually of the conductive type Recurrent pneumonia and chronic cough are common. Situs inversus with gross defects in cardiac septation may occur. [slideplayer.com]

arched palate Click here to view The maxillofacial skeleton was examined radiographically. [jofs.in]

palate high-with increased prevalence of cleft palate 3 4. [slideshare.net]

Underdevelopment of the pharynx can also narrow the airway. [11] Features related to TCS that are seen less frequently include nasal deformities, high-arched palate, macrostomia, preauricular hair displacement, cleft palate, hypertelorism, notched upper [en.wikipedia.org]

The premaxilla is generally underdeveloped, resulting in pseudoprognathism, High arched palate with an increased occurrence of clefting, Patients have many supernumerary teeth, which are crowded in the jaws and do not erupt, The supernumerary teeth have [quizlet.com]

Chapter on the diagnosis of oral lesions and developmental anomalies uses tables and extensive illustrations to depict developmental anomalies, white soft tissue lesions and enlargements, dark soft tissue lesions, ulcerative lesions, radiolucent lesions [books.google.com]

[…] gingivitis, Gingivostomatitis, Ulcerations on tongue and oral mucosa, Repeated episodes lead to severe periodontal disease Papillon-Lefèvre Syndrome An autosomal recessive inheritance pattern, Peripheral blood neutrophils are depressed, and the theory [quizlet.com]

The same subject had a history of gastric ulcer and sinus tachycardia; two dimensional echocardiogram was normal. [jmg.bmj.com]

colli syndrome; pterygium universale Familial Dysautonomia ( 1 Files ) Disease name: Familial Dysautonomia ICD 10 : G90.1 Synonyms: Riley-Day syndrome, Hereditary Sensory and Autonomic Neuropathy Type III, HSAN III, HSAN3, HSN-III Freeman-Burian syndrome [orphananesthesia.eu]

[…] body height Small stature [ more ] 0004322 Triangular face Face with broad temples and narrow chin Triangular facial shape [ more ] 0000325 Webbed neck Neck webbing 0000465 30%-79% of people have these symptoms Aplasia/Hypoplasia of the eyebrow Absence [rarediseases.info.nih.gov]

head circumference [ more ] 0000252 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Prominent nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding [rarediseases.info.nih.gov]

ears Low set ears Lowset ears [ more ] 0000369 Specific learning disability 0001328 X-linked inheritance 0001417 Showing of 29 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience [rarediseases.info.nih.gov]

Saethre-Chotzen syndrome 101400 AD craniosynostosis, acrocephaly, brachycephaly, flat facies, thin long pointed nose, cleft palate, cranial asymmetry, ptosis, malformed ears UNK DiGeorge syndrome chromosome region CATCH22 22q11 188400 DiGeorge syndrome 188400 AD low-set [widesmiles2.org]

Physical examination of the infant may reveal a variety of problems, including: Abnormal eye shape Flat cheekbones Clefts in the face Small jaw Low-set ears Abnormally formed ears Abnormal ear canal Hearing loss Defects in the eye (drooping that extends [texaschildrens.org]

ears with thickened helices, high nasal bridge, short webbed neck. [slideplayer.com]

Showing of 29 80%-99% of people have these symptoms Branchial anomaly 0009794 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Downslanted palpebral fissures Downward slanting of the opening between the eyelids [rarediseases.info.nih.gov]

impairment from EAC and/or middle ear malformations Preauricular fistulas, mandibular and malar hypoplasia, antimongoloid palpebral fissures, coloboma of the lower eyelids, may have cleft lip and palate, normal IQ 6 Treacher-Collins Syndrome (Mandibulofacial [slideplayer.com]

Impairment-Distinct Facies-Skeletal Anomalies Syndrome Mental Retardation-Macroorchidism Syndrome Mental Retardation-Microcephaly-Blepharochalasis Syndrome Mental Retardation-Mitral Valve Prolapse-Characteristic Face Syndrome Mental Retardation-Overgrowth [neo-genetics.com]

Severe hearing impairment occurs in 10% of patients, although milder degrees of hearing loss are more common. [nature.com]

Showing of 29 80%-99% of people have these symptoms Branchial anomaly 0009794 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Downslanted palpebral fissures Downward slanting of the opening between the eyelids [rarediseases.info.nih.gov]

impairment from EAC and/or middle ear malformations Preauricular fistulas, mandibular and malar hypoplasia, antimongoloid palpebral fissures, coloboma of the lower eyelids, may have cleft lip and palate, normal IQ 6 Treacher-Collins Syndrome (Mandibulofacial [slideplayer.com]

Impairment-Distinct Facies-Skeletal Anomalies Syndrome Mental Retardation-Macroorchidism Syndrome Mental Retardation-Microcephaly-Blepharochalasis Syndrome Mental Retardation-Mitral Valve Prolapse-Characteristic Face Syndrome Mental Retardation-Overgrowth [neo-genetics.com]

Severe hearing impairment occurs in 10% of patients, although milder degrees of hearing loss are more common. [nature.com]

posteriorly rotated ears 0000368 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Micrognathia Little lower jaw Small jaw Small lower [rarediseases.info.nih.gov]

Treacher-Collins Syndrome (Mandibulofacial Dysostosis)Treacher- (Mandibulofacial Dysostosis)Defects of 1st and 2nd BAAD; 1 in 25,000 to 50,000 births; 60% new mutationsMutations in the TCOF1 geneCharacteristic face: Hypoplastic zygoma causing narrow face [slideshare.net]

face), Abnormal and misplaced ears, Receding chin, Mouth appears fishlike, Patients are deaf because of a lack of otic ossicles (ear bones), These patients have a hypoplastic mandible with flattened condyles, coronoid processes, and an obtuse mandibular [quizlet.com]

nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Protruding ear Prominent ear Prominent ears [ more ] 0000411 Sensorineural hearing impairment 0000407 Short stature Decreased body height Small stature [ more ] 0004322 Triangular [rarediseases.info.nih.gov]

Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.Visit the Orphanet disease page for more resources. [malacards.org]

Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. Last updated: 11/19/2014 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

In some patients the skin, hair and corneal disease is accompanied by severe internal anomalies such as kidney dysplasia, brain anomalies and mental retardation, Hirschsprung disease, cleft palate, external ear malformations, cryptorchidism, and skeletal [disorders.eyes.arizona.edu]

A range of additional malformations, including cryptorchidism, renal anomalies, vertebral and rib anomalies, scoliosis, and lacrimal system abnormalities have each been reported in a minority of patients ( Table 2 ) [ Lines et al 2012, Lehalle et al 2014 [ncbi.nlm.nih.gov]