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303 Possible Causes for Dysmorphic Face, Long Philtrum

  • Three M Syndrome

    The main features in our cases were low birth weight, short stature, malar hypoplasia, anteverted nostrils with a fleshy nasal tip, long philtrum, pointed full chin, short[ncbi.nlm.nih.gov] The significant features of this syndrome include facial dysmorphism with gloomy face and very short stature, but no radiological abnormality or hormone deficiency.[ncbi.nlm.nih.gov] philtrum, fleshy tipped nose, midface hypoplasia and frontal bossing.[3msyndrome.wordpress.com]

  • Robinow Syndrome

    philtrum, small chin, brachydactyly, hypoplastic genitalia and a normal karyotype.[ncbi.nlm.nih.gov] The dysmorphic face was characterized by low set ears, flat-saddle nose, hypertelorism, elevated tip of nose and fish mouth ( Figure 1 ).[thritajournal.com] […] syndrome is a form of mesomelic dwarfism characterized by hypoplastic genitalia; atypical facies, with a flat profile, prominent forehead, hypoplastic mandible, hypertelorism, long[jamanetwork.com]

  • Trichorhinophalangeal Syndrome

    Abstract We describe a 5-year-old girl with features resembling Trichorhinophalangeal syndrome, type I (sparse scalp hair, bushy eyebrows, bulbous nose, long philtrum, cone-shaped[ncbi.nlm.nih.gov] Facial features include nose with a bulbous tip and hypoplastic alae nasi, a long philtrum, a thin upper vermilion border, and prominent ears.[link.springer.com] The TRPS-I phenotype is characterized by fine, sparse, brittle hair in association with a bulbous pear-shaped nose, tented alae, a long extended philtrum, a thin upper lip[ncbi.nlm.nih.gov]

  • Williams Syndrome

    A combination of specific facial characteristics including a stellate pattern in the iris, long philtrum and puffiness around the eyes; cardiovascular disease - especially[web.archive.org] It is characterized by dysmorphic face, cardiovascular disease, idiopathic hypercalcemia, mental retardation, and an uneven profile of cognitive-linguistic abilities and deficits[ncbi.nlm.nih.gov] 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 syndrome[merriam-webster.com]

  • Pallister-Killian Syndrome

    Individuals with PKS show a characteristic facial phenotype with frontal bossing, alopecia, sparse eyebrows, depressed nasal bridge, long philtrum, telecanthus, and posteriorly[ncbi.nlm.nih.gov] Most common signs include facial dysmorphism, rhizomelic limb shortness, small hands and feet with nail hypoplasia.[orpha.net] philtrum, short neck, low-implanted ears, large tongue, hypoplastic nails and small hands, sparse hair and areas of unusual skin pigmentation.[symptoma.com]

  • Marshall's Syndrome

    He had ocular hypertelorism with midface hypoplasia and a broad, flat nasal bridge, anteverted nares, and long philtrum. He also had sparse lusterless scalp hair.[jmg.bmj.com] Widened middle and proximal phalanges, failure to thrive, craniofacial abnormalities (small face, prominent eyes, blue sclera, flat nose with anteverted nares, choanal atresia[icd10data.com] […] marked by large ears, broad forehead, hypertelorism, and long philtrum.[icd10data.com]

  • Schwartz-Jampel Syndrome

    […] eyelashes in irregular rows 0007740 Long philtrum 0000343 Low anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Malignant hyperthermia 0002047[rarediseases.info.nih.gov] The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[advbiores.net] […] teeth Increased tooth count Supplemental teeth [ more ] 0011069 Inguinal hernia 0000023 Irritability Irritable 0000737 Laryngomalacia Softening of voice box tissue 0001601 Long[rarediseases.info.nih.gov]

  • Achondrogenesis

    Additional sonographic findings include: micrognathia macrocephaly frontal bossing flat face anteverted nares long philtrum narrow fetal thorax lung aplasia / hypoplasia rib[radiopaedia.org] philtrum; retrognathia; increased distance between lower lip and lower edge of chin; double chin appearance (often) Neck – Extremely short Thorax – Short and barrel-shaped[odlarmed.com] […] soft skull; sloping forehead; convex facial plane; flat nasal bridge, occasionally associated with a deep horizontal groove; small nose, often with anteverted nostrils; long[odlarmed.com]

  • SHORT Syndrome

    Figure 4 Faces of patients (1, 2, 3, 4,6, 7, 8, 9, 10 and 11) with PUF60 variants, illustrating the thin upper lip, long philtrum, micrognathia and the flaring of eyebrows[nature.com] CASE PRESENTATION: We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent[ncbi.nlm.nih.gov] Fig. 1 Dysmorphic features (triangular-shaped face with prominent forehead and deeply-set eyes) Fig. 2 Dysmorphic features and body silhouette - front view Fig. 3 Lipodystrophy[ijponline.biomedcentral.com]

  • Mulibrey Nanism Syndrome

    philtrum, philtrum, prominent lips, “gloomy gloomy facies” facies[yumpu.com] : Dysmorphic Muscle weakness Treatment: Avoid fasting longer than 12 hours Laboratory Acute metabolic acidosis Ethylmalonate excretion: High SCAD deficiency: Generalized No[neuromuscular.wustl.edu] Affected patients usually have a triangle-shaped face with a pointed chin, large ears, full eyebrows, an upturned nose with a fleshy tip, long philtrum, and a prominent mouth[ijponline.biomedcentral.com]

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