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749 Possible Causes for Small Facial Features

  • Otitis Media

    Associated features - Some hearing loss, tinnitus and fever. Small children may appear unwell, crying and be pulling at the affected ear.[] Remember - Document facial nerve exam, neurological status and ear examination including mastoid area.[]

  • Short Stature - Optic Atrophy - Pelger-Huët Anomaly Syndrome

    Current case4.9c.[2827G T];[5741G A] p.[(Glu943*)];[(Arg1914His)]0 (0) ( 6)Poor calvarium ossification, wide open fontanels, Wormian bones, maxilla hypoplasia, mild osteopenia, slender long tubular bones, delayed epiphyseal ossification Initially neutropenia, hypogammaglobulinemia, reduced B cells, no response to[…][]

  • Acromegaly

    Acromegaly may produce the following signs and symptoms, which can vary from one person to another: Enlarged hands and feet Coarsened, enlarged facial features Coarse, oily[] , thickened skin Excessive sweating and body odor Small outgrowths of skin tissue (skin tags) Fatigue and muscle weakness A deepened, husky voice due to enlarged vocal cords[]

  • Emanuel Syndrome

    , distinctive facial features, small lower jaw, ear abnormalities (e.g., preauricular pits or sinuses), high arched palate (roof of mouth), cleft palate, heart defects, kidney[] (microcephaly), distinctive facial features, small jaw, ear anomalies, arched palate (roof of the mouth), cleft palate, heart defects, kidney malformations, and genital abnormalities[] Signs and symptoms vary but can include weak muscle tone and failure to thrive in infancy, developmental delays, severe to profound intellectual disability, small head size[]

  • Fetal Disorder

    Physical features can include: abnormal facial features, small head, shorter-than-average height, low body weight, poor coordination, vision or hearing problems, and problems[] […] size for age, abnormally small head) Unique facial features such as: crossed eyes; small, droopy eyelids; short eye openings; flat, upturned nose with a low nasal bridge;[] Physical defects Physical defects may include: Distinctive facial features, including small eyes, an exceptionally thin upper lip, a short, upturned nose, and a smooth skin[]

  • Terminal 4q Deletion Syndrome

    […] region – Large head, craniostenosis, wide set eyes, small facial features, distinctive nose (wide, flat, high bridge), thin lips, small or receding chin · Slight epicanthic[] This clinical syndrome consists of absolute or relative macrocephaly with a characteristic head shape and facial features, profound hypotonia, small hands and feet, short[] […] signaling between the brain and the muscle can contribute to global delays · Large head · Low muscle tone is very common · Low set rotated ears · Malformations of the skull and facial[]

  • Achondrogenesis Type 2

    Typical facial features include a prominent forehead, a small chin, and, in some cases, an opening in the roof of the mouth (a cleft palate).[]

  • Renpenning Syndrome 1

    Signs and symptoms include the following: developmental delay, a small head (microcephaly), short stature, and distinctive facial features.[] However, males have distinct facial features, similar to those observed in XLMR-hypotonic facies, and obesity.[] […] include moderate to severe intellectual disability , microcephaly ( small head size ), short stature , and small testes. [4, 5] [6] Differences in facial features found in[]

  • Dubowitz Syndrome

    features; small triangular face, high sloping forehead, ptosis, short palpebral fissures, broad and flat nasal bridge; 3) microcephaly; 4) mild mental retardation; and 5)[] It is primarily diagnosed through the distinctive facial features of affected individuals, including a small triangular-shaped face with a high forehead and wide-set, slitted[] ) (4) is a very rare genetic and developmental disorder involving multiple congenital anomalies including: 1) growth failure/short stature; 2) unusual but characteristic facial[]

  • Kaufman Oculocerebrofacial Syndrome

    features including small head, narrow face, eye anomalies, small mandible, upslanting palpebral fissure (the distance between the upper & lower eyelids), highly arched palates[] This rare genetic medical condition is characterized by some abnormal looking facial features including small head, narrow face, eye anomalies, small mandible, upslanting[] & preauricular skin tags. severely inflicted people show very obvious facial features of a mentally retarded person....[]

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