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146 Possible Causes for Flat Facial Profile

  • Down Syndrome

    How Down Syndrome Affects Kids Kids with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and[kidshealth.org] These include: A round face with a flat profile and small facial features (nose, mouth, ears, and eyes) Protruding tongue Almond-shaped upturned eyes with epicanthus folds[verywell.com]

  • Autosomal-Recessive Robinow Syndrome

    Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with short stature, generalized limb shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. The gene encoding receptor orphan receptor tyrosine kinase 2 (ROR2) is located on chromosome 9q22 and[…][ncbi.nlm.nih.gov]

  • Robinow Syndrome

    ... characterized by craniofacial abnormalities, genital hypoplasia, spinal cord malformations and skeletal dysplasia ... macrocephaly with a flat facial profile, hypertelorism[ibis-birthdefects.org] facial profile, a long philtrum (Fig 1), hyperplastic alveolar ridges, a small upturned nose, a hypoplastic clitoris, short forearms, absence of the upper lacrimal puncta[jamanetwork.com] These result in a flat facial profile. The appearance of the face is similar to that of a fetus of about 8 weeks gestation.[rrnursingschool.biz]

  • 17q11 Microdeletion Syndrome

    facial profile, dolicocephaly, hypertelorism, short philtrum, flat nasal bridge and posteriorly… CONTINUE READING[semanticscholar.org] facial profile, dolicocephaly, hypertelorism, short philtrum, flat nasal bridge and posteriorly rotated and low set ears.[molecularcytogenetics.biomedcentral.com] […] novo deletion at 17q11.2 adjacent to NF1 gene, who presented with developmental delay, short stature, postnatal microcephaly, underweight and dysmorphic features including flat[semanticscholar.org]

  • Stickler Syndrome Type 2

    The flat facial profile of Marshall syndrome is usually evident into adulthood, unlike Stickler syndrome.[encyclopedia.com] Characterized by flat facial profile, cleft palate, and severe hearing loss ...[ibis-birthdefects.org] Facial/craniofacial findings include the following characteristics 1 : Flat facial profile caused by underdevelopment of the nasal bridge and maxilla (upper jawbone), which[centogene.com]

  • High Myopia-Sensorineural Deafness Syndrome

    Characterized by flat facial profile, cleft palate, and severe hearing loss ...[ibis-birthdefects.org] Facial/craniofacial findings include the following characteristics 1 : Flat facial profile caused by underdevelopment of the nasal bridge and maxilla (upper jawbone), which[centogene.com]

  • Mental Retardation

    facial profile; upslanting palpebral fissures; small ears; in-curving fifth fingers; single transverse palmar creases Slow growth; congenital heart defect; thyroid dysfunction[aafp.org] 600 to 800 births Results from extra copy of chromosome 21, usually a sporadic event; 2% of cases may be inherited from a balanced translocation carrier parent Hypotonia; flat[aafp.org]

  • Stickler Syndrome Type 5

    Characterized by flat facial profile, cleft palate, and severe hearing loss ...[ibis-birthdefects.org] Facial/craniofacial findings include the following characteristics 1 : Flat facial profile caused by underdevelopment of the nasal bridge and maxilla (upper jawbone), which[centogene.com] Craniofacial findings include a flat facial profile or an appearance that is often referred to as a "scooped out" face.[ncbi.nlm.nih.gov]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Most have a flat facial profile (particularly flattening of the bridge of the nose), but some do not have obviously unusual physical characteristics at birth and then develop[merckmanuals.com] He appears jaundiced; he has a flat facial profile; epicanthal folds and upslanting palpebral fissures, flat nasal bridge, small mouth with protruding tongue, small, cupped[hawaii.edu] LH3 deficiency syndrome LH3 deficiency syndrome can manifest with a characteristic facies of shallow orbits, a small nose, down-turned mouth corners, a flat facial profile[nature.com]

  • Congenital Velopharyngeal Incompetence

    facial profile Epicanthal folds Midface hypoplasia Flat nasal bridge Development usually normal Diagnosis usually made clinically because genetically heterogeneous May be[en.wikibooks.org] Robin sequence Early onset osteoarthiritis Severe myopia and retinal detachments Sensorineural and conductive hearing loss Characteristic facies Micrognathia in infancy Flat[en.wikibooks.org]

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