Create issue ticket

17 Possible Causes for Growth Retardation in Severe Cases, Hypertrichosis of Eyebrows, Short Stature in Children

  • 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]

  • 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]

  • Rubinstein-Taybi Syndrome

    All patients had psychomotor/mental retardation, which ranged from mild to severe in 17 cases.[bmcmedgenet.biomedcentral.com] Children with RTS usually have a normal birth weight, but subsequent growth is poor, with most children being of short stature with a small head size.[cafamily.org.uk] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com]

  • 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] 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] 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]

  • Microcephaly

    […] are similar to the case presented here and were characterized by severely affected CNS and gross intrauterine growth retardation.[doi.org] […] with microcephaly also have other medical problems such as: very short stature or dwarfism facial deformities seizures vision and hearing problems joint deformities (for[childrenshospital.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]

  • Congenital Macroglossia

    […] with more severe growth retardation in utero and an elevated risk of malformation.[clinicalepigeneticsjournal.biomedcentral.com] […] may present with short stature and delayed onset of puberty.[asean-endocrinejournal.org] Growth delay Absent speech Hypertrichosis Wide nasal bridge Restrictive ventilatory defect Cataract Vertebral fusion Difficulty climbing stairs Calf muscle hypertrophy Difficulty[mendelian.co]

  • Bangstad Syndrome

    Increased intraabdominal fat Triangular face Severe intrauterine growth retardation Postnatal growth retardation Attention deficit hyperactivity disorder Osteolytic defects[mendelian.co] General information guide to short stature (Australia). Short Statured People of Australia Inc.[ibis-birthdefects.org] stature; problems affecting the internal reproductive organs (ovaries or testes) that can cause inability to conceive children (infertility); and dysfunction of the thyroid[ghr.nlm.nih.gov]

  • Hereditary Disease

    […] and psychomotor retardation, joint dislocation/c ontractures, recurrent infections, severe pulmonary hypertenison p21.2 p22.3 9475103, 10494083 case 30 [10494083] triprication[chr7.org] These children also show palmar creases, hyperextensible skin, joint laxity, microcephaly, and short stature.[entokey.com] Ann Genet. 1999;42(2):101-4. dup Interstitial dup(1p) and severe intrauterine growth retardation.[changbioscience.com]

  • Kondoh 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] Additional features of this disorder in children and adults can include an unusually large head ( macrocephaly ), short stature, problems with vision, and seizures.[ghr.nlm.nih.gov] Language delay in the KMS has been reported by several authors, and it is linked in some cases with deafness; other authors suggest a neurological origin of the delay, while[omicsonline.org]

  • Coffin-Siris Syndrome 2

    It characterized by moderate to severe psychomotor and growth retardation, characteristic facial features, skeletal deformities and tapering fingers in males.[alliedacademies.org] Coffin-Siris Syndrome, also known as Dwarfism-Onychodysplasia Fifth Digit Syndrome Mental Retardation with Hypoplastic 5th Fingernails and Toenails Short Stature-Onychodysplasia[coffinsiris.wordpress.com] Coffin-Siris syndrome is characterized by nail hypoplasia of the fingers and toes, eyebrow hypertrichosis, prominent lips and prenatal or postnatal growth retardation.[ncbi.nlm.nih.gov]