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1,328 Possible Causes for Facial Appearance Becomes More Apparent with Age, Hypertrichosis of Eyebrows, Short Stature in Children

  • Wiedemann-Steiner Syndrome

    Investigation of pituitary function should be undertaken in children with WSS and short stature.[ncbi.nlm.nih.gov] […] 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]

  • 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] Abstract A family is reported in which the mother and 4 of her 6 children are affected by a constellation of abnormalities including mental handicap, abnormal facies, short[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]

  • 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
  • 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
  • Growth Failure

    […] lead to short stature.[rileychildrens.org] Children with short stature in whom no specific cause is identified may be diagnosed with idiopathic short stature.[ncbi.nlm.nih.gov] When examined further, causes for short stature within this group of children included familial short stature (37%), constitutional delay (27%), a combination of familial[emedicine.medscape.com]

    Missing: Facial Appearance Becomes More Apparent with Age Hypertrichosis of Eyebrows
  • Schwartz-Jampel Syndrome

    stature and skeletal dysplasia.[ncbi.nlm.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] We report six Indian children with this disorder presenting with different clinical manifestations.[ncbi.nlm.nih.gov]

    Missing: Facial Appearance Becomes More Apparent with Age
  • 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] […] clinical features ...linical-features] {3:Senior (1971)} described 6 'short children with tiny fingernails.'[bio2rdf.org] […] 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]

  • SHORT Syndrome

    Short Stature in Children Symptoms Short parents tend to have short children.[emedicinehealth.com] We and others noticed that some patients had features reminiscent of CdLS, particularly where facial hypertrichosis and prominent eyebrows were present.[nature.com] […] lead to short stature.[rileychildrens.org]

    Missing: Facial Appearance Becomes More Apparent with Age
  • Vitamin D Deficiency

    We report a rare case of a 27-year-old Asian female presenting with simultaneous brown tumours in the maxilla and mandible secondary to vitamin D deficiency which was a result of dietary deficiency and lack of exposure to sunlight.[ncbi.nlm.nih.gov]

    Missing: Facial Appearance Becomes More Apparent with Age Hypertrichosis of Eyebrows
  • Thanatophoric Dysplasia

    Dwarf, thanatophoric thanatophoric dwarfism thanatophoric short stature Cohen MM Jr. Some chondrodysplasias with short limbs: molecular perspectives.[ghr.nlm.nih.gov] […] lungs Cloverleaf skull Feeding difficulties in infancy Rare Symptoms - Less than 30% cases Smooth philtrum Hypoglycemia Talipes Hyperhidrosis Mandibular prognathia Thick eyebrow[mendelian.co] Thanatophoric dysplasia is also known by the names: Dwarf, thanatophoric Thanatophoric dwarfism Thanatophoric short stature Symptoms of Thanatophoric Dysplasia Unfortunately[disabled-world.com]

    Missing: Facial Appearance Becomes More Apparent with Age