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68 Possible Causes for Short Stature in Less than 50%

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  • Hereditary Multiple Exostoses

    Journal of the American Academy of Orthopaedic Surgeons. 13(2):110–120, MAR 2005 PMID: 15850368 Issn Print: 1067-151X Publication Date: 2005/03/01 Checking for direct PDF access through Ovid Abstract The solitary osteochondroma, a common pediatric bone tumor, is a cartilage-capped exostosis. Hereditary multiple[…][doi.org]

  • Neurogenic Arthrogryposis Multiplex Congenita

    […] cases Gait disturbance Scoliosis Joint hypermobility Global developmental delay Coarse facial features Sensorineural hearing impairment Flexion contracture Short stature[mendelian.co] Seizures Joint laxity Myopathy Rare Symptoms - Less than 30% cases Peripheral neuropathy Abnormality of the face Pica Macroglossia Increased susceptibility to fractures Blue[mendelian.co] […] more Other less frequent symptoms Patients with Skeletal muscle atrophy and Hernia. may also develop some of the following symptoms: Uncommon Symptoms - Between 30% and 50%[mendelian.co]

  • Pseudopseudohypoparathyroidism

    Short stature may be present. Obesity is less common in pseudopseudohypoparathyroidism than in pseudohypoparathyroidism. Osteoma cutis may be present.[en.wikipedia.org] A male with pseudohypoparathyroidism has a 50% chance of passing on the defective GNAS gene to his children, although in an imprinted, inactive form.[en.wikipedia.org]

  • Hypogonadotropic Hypogonadism Type 18

    stature Delayed skeletal maturation Rare Symptoms - Less than 30% cases Secondary amenorrhea Failure to thrive Delayed puberty Primary amenorrhea Global developmental delay[mendelian.co] […] frequent symptoms Patients with Hearing impairment and Osteoporosis. may also develop some of the following symptoms: Uncommon Symptoms - Between 30% and 50% cases Short[mendelian.co] […] inheritance Uncommon - Between 30% and 50% cases Recurrent fractures Uncommon - Between 30% and 50% cases Accelerate your rare disease diagnosis with us Learn more Other less[mendelian.co]

  • Familial Short Stature

    Treatment should be discontinued if: Growth velocity increases by less than 50% from baseline in the first year of treatment.[patient.info] Short stature is defined as a height more than two standard deviations below the mean for age (less than the 3rd percentile).[aafp.org] Have short stature homeobox-containing gene (SHOX) deficiency.[patient.info]

  • Laron Syndrome with Immunodeficiency

    […] and 80% cases Other less frequent symptoms Patients with Brachydactyly and Hypoglycemia. may also develop some of the following symptoms: Common Symptoms - More than 50%[mendelian.co] […] cases Severe short stature Uncommon Symptoms - Between 30% and 50% cases Strabismus Common Symptoms - More than 50% cases Hypertelorism Uncommon Symptoms - Between 30% and[mendelian.co] Between 80% and 100% cases Global developmental delay Common - Between 50% and 80% cases Seizures Common - Between 50% and 80% cases Abnormal facial shape Common - Between 50%[mendelian.co]

  • Osteogenesis Imperfecta Type 3

    Gene I AD Light Less than 100 Normal Blue Yes (50%) COL1A1 II AD Very Severe Multiple Very Short Dark Blue - COL1A1 or COL1A2 III AD Severe Multiple Very Short Blue Yes COL1A1[wikilectures.eu] Different types of OI 8 different types are determined by the severity and progression of the disease: Type Heredity Severity Fractures Stature Sclerotic Deafness Mutated[wikilectures.eu]

  • Osteogenesis Imperfecta Type 5

    Gene I AD Light Less than 100 Normal Blue Yes (50%) COL1A1 II AD Very Severe Multiple Very Short Dark Blue - COL1A1 or COL1A2 III AD Severe Multiple Very Short Blue Yes COL1A1[wikilectures.eu] Different types of OI 8 different types are determined by the severity and progression of the disease: Type Heredity Severity Fractures Stature Sclerotic Deafness Mutated[wikilectures.eu]

  • Myopathic Carnitine Deficiency

    […] distal Exercise intolerance Short stature Less than 50% of patients: Cardiomyopathy Myoclonus Ataxia Oligosymptomatic maternal relatives are common Lesions may affect the[neurodiffdx.com] […] territory; maybe severe Migraine headaches; preceded by nausea and vomiting Encephalopathy: Seizures Progressive dementia Hemiparesis Hemianopia Myopathy: Proximal greater than[neurodiffdx.com]

  • 18-Hydroxylase Deficiency

    […] cases Failure to thrive Hepatomegaly Neonatal onset Polydipsia Skin rash Irritability Rare Symptoms - Less than 30% cases Respiratory tract infection Intellectual disability[mendelian.co] Meningitis Short stature Growth delay Heterogeneous Constipation Polyuria Nephrogenic diabetes insipidus Milia Megacystis Unexplained fevers Hypertonic dehydration Pain Abdominal[mendelian.co] […] diagnosis with us Learn more Other less frequent symptoms Patients with Fever and Vomiting. may also develop some of the following symptoms: Uncommon Symptoms - Between 30% and 50%[mendelian.co]

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