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170 Possible Causes for Facial Appearance Becomes More Apparent with Age, Hypertrichosis of Eyebrows

  • Wiedemann-Steiner Syndrome

    […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net] Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures.[uniprot.org] Wiedemann-Steiner syndrome Disease definition Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis[orpha.net]

  • Coffin-Lowry Syndrome

    Pitt-Hopkins syndrome is characterized by distinctive facial features that become more apparent with age, significant developmental delay / intellectual disability, and episodic[ncbi.nlm.nih.gov] Genital anomalies range from hypospadias and undescended testes to severe hypospadias and ambiguous genitalia, to normal-appearing female genitalia in individuals with a 46[ncbi.nlm.nih.gov]

  • BOD Syndrome

    Infants may have an abnormal facial appearance at birth. As the child grows, the facial abnormalities characteristic of Coffin-Siris syndrome become more apparent.[encyclopedia.com] […] and eyelash hypertrichosis, diffuse hirsutism and, most typically, hypoplastic to absent fifth finger nails and phalanges (Fig. 39.2), although other fingers and/or toes[cambridge.org] Sparse scalp hair in an infant usually becomes more dense with age and excessive hair growth (hirsutism) develops.[encyclopedia.com]

  • Rubinstein-Taybi Syndrome

    The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously[ncbi.nlm.nih.gov] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com] , microcephaly, broad thumbs and hallux which are often angulated, hyper-extensive joints, small tilted pelvis, hypertrichosis, and undescended testes. [2] Current literature[faoj.org]

    Missing: Facial Appearance Becomes More Apparent with Age
  • Fucosidosis

    Fucosidosis is an extremely rare, autosomal recessive lysosomal storage disease, characterized by a deficiency of the lysosomal hydrolase alpha fucosidase. We report a case of a 6-year-old child, diagnosed with fucosidosis type 2, who presented for dental rehabilitation under general anesthesia. Anesthesia was[…][ncbi.nlm.nih.gov]

    Missing: Facial Appearance Becomes More Apparent with Age
  • Cerebro-Facio-Thoracic Dysplasia

    ), a narrow forehead and a short nose; there are also hypertrichosis (espec- ially posteriorly) and mental retardation.[vdocuments.site] The facial appearance in the de Lange syndrome is very similar to that found in cerebro-facio-thoracic dysplasia, for there is synophrys (joining of the eyebrows in midline[vdocuments.site]

    Missing: Facial Appearance Becomes More Apparent with Age
  • Marshall-Smith Syndrome

    - A dictionary of medical eponyms Related people David Weyhe Smith Richard E. Marshall A syndrome of motor and mental retardation, accelerated skeletal maturation, failure to thrive, and abnormal facies. The clinical course is marked mainly by pneumonia, stridor, respiratory distress, and death. The aetiology is[…][whonamedit.com]

    Missing: Facial Appearance Becomes More Apparent with Age
  • Alpha-Mannosidosis

    Alpha-mannosidosis is a lysosomal storage disorder, first described by Swedish physician Okerman in 1967. In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency.[…][en.wikipedia.org]

    Missing: Facial Appearance Becomes More Apparent with Age
  • Sick Sinus Syndrome

    Additional features may include thick eyebrows, long eyelashes, and generalized excessive hair growth (hypertrichosis) with the exception of the scalp hair, which tends to[rarediseases.org] […] and eyelashes or excess hair growth in unusual places such as the back (hypertrichosis); and sparse scalp hair.[rarediseases.org] […] malformations may include an abnormally small head (microcephaly) or large head (macrocephaly); a wide nose with a low nasal bridge; a wide mouth with thick, prominent lips; thick eyebrows[rarediseases.org]

    Missing: Facial Appearance Becomes More Apparent with Age
  • Familial Angiolipomatosis

    […] of the medial part of the eyebrows, white forelock, heterochromia iridis; and deaf-mutism. 40 , 41 There are now four recognised variants of Waardenburg syndrome (types I–IV[nature.com] , which had six main features: lateral displacement of the medial canthi combined with dystopia of the lacrimal punctum and blepharophimosis; prominent broad nasal root; hypertrichosis[nature.com]

    Missing: Facial Appearance Becomes More Apparent with Age

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