Presentation
Autosomal dominant Gene Map Locus Not Mapped Teebi type hypertelorism is an autosomal dominant disorder which is differentiated from other types of hypertelorism by the numerous correlated dysmorphic craniofacial characteristics that might or might not be present [cags.org.ae]
Here we present a 2 year 5 month old girl with Teebi syndrome showing a prominent forehead, hypertelorism, mild exophthalmos, downslanting palpebral fissures, a depressed nasal bridge, a broad nasal tip, a long philtrum, natal teeth, a thin upper lip, [unboundmedicine.com]
Teebi type Teebi hypertelorism syndrome Teebi syndrome Prevalence: 1 / 1 000 000 Inheritance: Autosomal dominant Age of onset: Neonatal ICD-10: Q87.0 OMIM: 145420 UMLS: C1840378 MeSH: - GARD: 957 MedDRA: - The documents contained in this web site are presented [orpha.net]
Natal tooth Neonatal teeth, Natal teeth, Born with teeth, Teeth present at birth [more] Erupted tooth or teeth at birth. Cryptorchidism Undescended testes, Undescended testis, Cryptorchism [more] Testis in inguinal canal. [rarediseases.oscar.ncsu.edu]
Entire Body System
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Atrial Septal Defect
Finger clinodactyly Curvature of finger Atrial septal defect Atrial septum defect, Atria septal defect, Defect in the atrial septum, ASD [more] Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between [rarediseases.oscar.ncsu.edu]
septal defect, patent ductus arteriosus) defects. [orpha.net]
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Physician
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]
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Disability
[…] overlap of SPECC1L syndrome with mild Baraitser-Winter craniofrontofacial syndrome: they share similar dysmorphic features (wide, short nose with a large tip, cleft lip and palate, blepharoptosis, retrognathia, and craniosynostosis), although intellectual disability [vbn.aau.dk]
Skin
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Eruptions
Natal tooth Neonatal teeth, Natal teeth, Born with teeth, Teeth present at birth [more] Erupted tooth or teeth at birth. Cryptorchidism Undescended testes, Undescended testis, Cryptorchism [more] Testis in inguinal canal. [rarediseases.oscar.ncsu.edu]
Musculoskeletal
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Normal Stature
It varies from craniofrontonasal dysplasis by a nasal tip that might appear to be broad but not bifid, normal stature, and the lack of craniosynostosis or anomalies of the fingernails. [cags.org.ae]
Psychiatrical
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Suggestibility
In conclusion, we suggest that patients with pathogenic variants in SPECC1L should not be described as "dominant (or type 2) Opitz GBBB syndrome", and instead should be referred to as "SPECC1L syndrome" as both disorders show distinctive, non overlapping [vbn.aau.dk]
Treatment
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
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]