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228 Possible Causes for Coarse Facial Features, Short Stature in Children

  • Mucopolysaccharidosis

    facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[] Many children develop a short body trunk and a maximum stature of less than 4 feet.[] The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[]

  • Mucopolysaccharidosis 2

    Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[] The signs and symptoms may include abnormal facial features, cloudy corneas, abnormal development of spine, heart valve defects, and short stature in children A healthcare[] MPS IIA Common presenting signs and symptoms in children with classic MPS IIA include progressive coarsening of facial features, short stature, joint stiffness, hepatosplenomegaly[]

  • Mucopolysaccharidosis 1

    Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[] Corneal clouding and cognitive impairment develop, as well as cessation of growth, causing short stature. Joint stiffness and contractures limit mobility.[] The severe form of MPS I is known as Hurler syndrome or MPS I H : Children affected with the severe form may have mental retardation, short stature, stiff joints, speech and[]

  • Mucopolysaccharidosis 1H

    […] hairy skin all over the body, a tuft of hair in the parietal region, coarse facial features and a prominent forehead with a large tongue, hepatosplenomegaly and skeletal[] Affected children have a short stature and suffer from hepatosplenomegaly, a condition characterized by an enlarged liver and spleen.[] Many children develop a short body trunk and a maximum stature of less than 4 feet.[]

  • Fucosidosis

    Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features[] facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.[] Its clinical phenotypes include progressive neurological and mental deterioration, coarse facial features, growth retardation, visceromegaly, angiokeratomas, and seizures.[]

  • Juvenile Myxedema

    Abstract A FREQUENT presenting sign of hypothyroidism in children is short stature.[] Not all children with short stature have GH deficiency. In most instances, the cause is either familial short stature or constitutional growth delay.[] Diagnostic Evaluation Only a small number of children with delayed growth or short stature have hypopituitary dwarfism.[]

  • Pseudo-Hurler Polydystrophy

    These patients usually have skeletal abnormalities, coarse facial features, short height, corneal clouding, carpal tunnel syndrome, aortic valve disease and mild enlargement[] Individuals with mucolipidosis III alpha/beta grow slowly and have short stature.[] Symptoms of Pseudo-Hurler polydystrophy Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Coarse facial features Craniosynostosis[]

  • Mucopolysaccharidosis 7

    Features of MPS VII are large head coarse facial features large tongue enlarged liver and spleen heart valve abnormalites umbilical hernia may have narrow airways cloudy cornea[] […] developmental delay, autistic features, sleep disturbances and mildly coarse facial features.[] The child had coarse facial features, corneal clouding, depressed nasal bridge, large tongue and high arched palate with a 2-cm mouth opening [Figure 1].[]

  • Alpha-Mannosidosis

    Clinical symptoms include coarse facial features, skeletal involvement (dysostosis multiplex), hearing disabilities, mental retardation and hepatosplenomegaly.[] facial features, dysostosis multiplex, hearing disabilities, mental developmental delay and skeletal involvement (dysostosis multiplex).[] The typical signs consist of hearing impairment, intellectual disabilities, coarse facial features and motor function disturbances.[]

  • Mucopolysaccharidosis 4A

    facial features Coarse facial appearance 0000280 Constricted iliac wings 0003277 Coxa valga 0002673 Disproportionate short-trunk short stature Disproportionate short-trunked[] Many children develop a short body trunk and a maximum stature of less than 4 feet.[] Signs & Symptoms Individuals with MPS disorders share many similar symptoms such as multiple organ involvement, distinctive “coarsefacial features, and abnormalities of[]

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