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97 Possible Causes for Flat Facial Profile, short, Upturned Nose

  • Autosomal-Recessive Robinow Syndrome

    In contrast, Ror2-/- mice have a short-limbed phenotype that is more reminiscent of the mesomelic shortening observed in RRS.[ncbi.nlm.nih.gov] Clinical signs such as short stature, characteristic facial features (hypertelorism, midface hypoplasia, large nasal bridge, short upturned nose, and anteverted nares), mesomelic[orpha.net] […] hard palate 0010290 Short middle phalanx of the 5th finger Short middle bone of the little finger Short middle bone of the pinkie finger Short middle bone of the pinky finger[rarediseases.info.nih.gov]

  • Robinow Syndrome

    We describe a child with short stature of prenatal onset, rhizomelic limb shortness affecting the upper limbs particularly, and an unusual face.[ncbi.nlm.nih.gov] 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] All the patients had cardinal features of this condition, such as short stature, frontal bossing, hypertelorism, short upturned nose with anteverted nares, micrognathia, mesomelic[ncbi.nlm.nih.gov]

  • Pallister-Killian Syndrome

    Craniofacial manifestations include a coarse'' face with flat profile, high forehead with temporo-frontal balding, sparseness of eyebrows and lashes, shallow supraorbital[orpha.net] The dysmorphic features included a board forehead with high anterior hairline, hypertelorism, flat nasal bridge, short upturned nose, down turned corners of the mouth, short[ashg.org] Table 2 Clinical features 1 Female 18y/22y Flat, broad nasal root, upslanting palpebral fissures, hypertelorism, coarse face, anteverted nostrils, retrognathia, small ears[molecularcytogenetics.biomedcentral.com]

  • Williams Syndrome

    A short-term longitudinal single case study was carried out spanning 10 months.[ncbi.nlm.nih.gov] Infants have full cheeks and a flat facial profile, whereas older children and adults often have a long narrow face and a long neck. 10,11 Blue- and green-eyed children with[pediatrics.aappublications.org] nose, long philtrum, wide mouth, full lips, and pointed chin), a sociable personality, and mild to moderate mental retardation but a high verbal aptitude Comments on Williams[merriam-webster.com]

  • Stickler Syndrome Type 2

    Symptoms - Stickler syndrome- type 2 * Flat face * Depressed nasal bridge * Prominent eyes * Epicanthal folds * Short nose * Anteverted nostrils * Underdeveloped mid face[checkorphan.org] The flat facial profile of Marshall syndrome is usually evident into adulthood, unlike Stickler syndrome.[encyclopedia.com] Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Autosomal dominant inheritance 0000006 Enlarged epiphyses Large end part of bone 0010580 Epiphyseal dysplasia[rarediseases.info.nih.gov]

  • Down Syndrome

    BACKGROUND: Verbal short-term memory (STM) capacity has been considered to support vocabulary learning in typical children and adults, but evidence for this link is inconsistent[ncbi.nlm.nih.gov] 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]

  • Smith Lemli Opitz Syndrome

    A characteristic craniofacial pattern profile was universally present: narrow forehead, brachycephaly, short palpebral fissures, short nasal ridge, anteverted nares, flat[ncbi.nlm.nih.gov] short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[icd10data.com] Facial anomalies, which include wide and flat nasal bridge, small sized nose with an upturned tip or pug nose, anteverted nostrils, undersized jaw (micrognathia), the ear[syndromespedia.com]

  • Short stature-Valvular Heart Disease-Characteristic Facies Syndrome

    Common normal variants of short stature are familial short stature, constitutional delay of growth and puberty, and idiopathic short stature.[aafp.org] 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] Both were mentally retarded and had large mouths, patulous lips, small chins, baggy cheeks, blunt upturned noses, wide-set eyes, left internal strabismus, and malformed teeth[mitchmedical.us]

  • Stickler Syndrome Type 3

    Symptoms - Stickler syndrome- type 3 * Flat face * Depressed nasal bridge * Prominent eyes * Epicanthal folds * Short nose * Anteverted nostrils * Underdeveloped mid face[checkorphan.org] Characterized by flat facial profile, cleft palate, and severe hearing loss ...[ibis-birthdefects.org] Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Autosomal dominant inheritance 0000006 Enlarged epiphyses Large end part of bone 0010580 Epiphyseal dysplasia[rarediseases.info.nih.gov]

  • Connective Tissue Disorder due to Lysyl Hydroxylase-3 Deficiency

    Key online features: 30 extra short chapters online, written by members of the International Advisory Board to cover key international issues, such as malaria, envenoming[books.google.com] 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] It cleaves short amino acid chains from procollagen molecules into mature collagen.[rarediseases.org]

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