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24 Possible Causes for Growth Retardation in Severe Cases, Hypertrichosis of Eyebrows

  • 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]

  • Coffin-Lowry Syndrome

    It characterized by moderate to severe psychomotor and growth retardation, characteristic facial features, skeletal deformities and tapering fingers in males.[alliedacademies.org] Key concepts Coffin–Lowry syndrome is an X‐linked semidominant syndrome characterized typically by severe psychomotor and growth retardation, facial dysmorphism, digit abnormalities[els.net] It is caused by mutations in the RSK2 gene detected in up to 50% of cases.[alliedacademies.org]

  • Rubinstein-Taybi Syndrome

    All patients had psychomotor/mental retardation, which ranged from mild to severe in 17 cases.[bmcmedgenet.biomedcentral.com] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com] 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]

  • Fucosidosis

    Fucosidosis results in progressive neurological deterioration, skin abnormalities, growth retardation, skeletal disease and coarsening of facial features.[rarediseases.org] The symptoms and severity of fucosidosis are highly variable and the disorder represents a disease spectrum in which individuals with mild cases have been known to live into[rarediseases.org]

  • Microcephaly

    […] are similar to the case presented here and were characterized by severely affected CNS and gross intrauterine growth retardation.[doi.org] Characteristic facial features included micrognathia, a thin upper lip and long philtrum, narrow almond-shaped palpebral fissures, synophrys, flared eyebrows and facial hypertrichosis[ncbi.nlm.nih.gov] Calcifications in the placenta and a low placental–fetal weight ratio, 11 which were seen in this case, indicate potential damage to the placenta by the virus.[doi.org]

  • Ring Chromosome 9

    growth failure, minor dysmorphic features, and mild to moderate mental retardation, without major malformations.[jmg.bmj.com] eyebrows, short neck and we diagnosed this patient as ring chromosome 9 by chromosomal analysis.[ncbi.nlm.nih.gov] Altogether this situation should lead to the “ring syndrome” 1 that in cases with intact ring chromosomes is characterised, independently of the chromosome involved, by severe[jmg.bmj.com]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    The mode of revelation of this syndrome is very variable, it may be hypotonia, feeding difficulties, recurrent infections, growth retardation or obesity.[omicsonline.org] (abnormal hair density and length) Hirsutisme dorsal (hairy back) Synophrys (abundant hair between the eyebrows) Congenital dislocations/Skeletal BOS Posture [1] Scoliosis[bohring-opitz.org] 4 [9297445], case 11 [10494083] Edit 14 8362903 46, XY, r(7)(p22q36) [95%]/ 46, XY [5%] severe mental retardation, growth failure, microcephaly, cleft lip and palate, caf[chr7.org]

  • Congenital Ankyloblepharon

    […] intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003 ).[mendelian.co] Symptoms Skin: Poikiloderma Hair: Alopecia; Absent eyebrows and eyelashes; Absent lanugo Mouth: Retrognathia; Cleft palate; Microretrognathia Inheritance: ?[findzebra.com] While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic[mendelian.co]

  • Congenital Macroglossia

    […] with more severe growth retardation in utero and an elevated risk of malformation.[clinicalepigeneticsjournal.biomedcentral.com] Growth delay Absent speech Hypertrichosis Wide nasal bridge Restrictive ventilatory defect Cataract Vertebral fusion Difficulty climbing stairs Calf muscle hypertrophy Difficulty[mendelian.co] By an extensive clinical analysis of a series of mosaic trisomy 16 cases (n   83) including upd(16)mat (n   33), Yong et al. [ 69 ] concluded that upd(16)mat might be associated[clinicalepigeneticsjournal.biomedcentral.com]

  • Bangstad Syndrome

    Increased intraabdominal fat Triangular face Severe intrauterine growth retardation Postnatal growth retardation Attention deficit hyperactivity disorder Osteolytic defects[mendelian.co] Nephrolithiasis Abnormality of the genital system Long toe Dermal atrophy Hypertrichosis Umbilical hernia Premature loss of teeth Abnormally large globe Brittle hair Delayed[mendelian.co] Polycystic ovaries Hyperglycemia Insulin-resistant diabetes mellitus Failure to thrive Flexion contracture Glucose intolerance Hypertension Rare Symptoms - Less than 30% cases[mendelian.co]

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