Create issue ticket

4,099 Possible Causes for Hypoplasia of Dentate Nucleus, Multiperforated Patent Foramen Ovale, Short Stature

  • Adams-Oliver Syndrome Type 5

    stature syndrome SHOX Short stature, microcephaly, and endocrine dysfunction XRCC4 Short stature, optic nerve atrophy, and Pelger-Huet anomaly NBAS SHORT syndrome PIK3R1[centogene.com] stature syndrome Ouvrier Billson syndrome Short rib-polydactyly syndrome type 3 Oculocutaneous albinism type 1 Bardet-Biedl syndrome 3 Autosomal dominant partial epilepsy[checkrare.com] stature. [7] In addition to chronic subdural collection under the areas of bone defect, we noted mild pachygyria in neuroimaging of our patient.[advbiores.net]

  • Wolcott-Rallison Syndrome

    She was noted to have short stature at 8 years of age (height EIF2AK3 mutation, and a diagnosis of Wolcott Rallison syndrome was made.[doi.org] nucleus NO Elbow dislocation NO Hypoplasia of the capital femoral epiphysis NO Exercise-induced muscle cramps NO Recurrent patellar dislocation NO Short middle phalanx of[playground.phenotips.org] Patient had delayed milestones and short stature. On follow up, child developed limb deformity and was diagnosed to have skeletal dysplasia.[ncbi.nlm.nih.gov]

    Missing: Multiperforated Patent Foramen Ovale
  • Helsmoortel-van der Aa Syndrome

    Brain abnormalities, behavioral problems, sleep disturbance, epilepsy, hypotonia, visual problems, congenital heart defects, gastrointestinal problems, short stature, and[ncbi.nlm.nih.gov] The causative gene in SCA21, TMEM240, is highly expressed in the cerebellum, dentate gyrus, putamen and caudate nucleus.[pediatricneurologybriefs.com] Growth failure leading to short stature is sometimes due to a growth hormone deficiency.[findzebra.com]

    Missing: Multiperforated Patent Foramen Ovale
  • Autosomal Dominant Mental Retardation Type 21

    short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[icd10data.com] The causative gene in SCA21, TMEM240, is highly expressed in the cerebellum, dentate gyrus, putamen and caudate nucleus.[pediatricneurologybriefs.com] Stature Syndrome, Brussels Type Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia[rgd.mcw.edu]

    Missing: Multiperforated Patent Foramen Ovale
  • Growth Failure

    Children with short stature in whom no specific cause is identified may be diagnosed with idiopathic short stature.[ncbi.nlm.nih.gov] References: [9] Treatment Management depends on the underlying cause : References: [9] Skeletal dysplasias Achondroplasia Etiology Epidemiology Most common type of skeletal[amboss.com] skeletal dysplasias and intrauterine growth restriction without catch-up growth.[ncbi.nlm.nih.gov]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Malnutrition

    Some of the symptoms of severe malnutrition include short stature, low energy levels, and swollen legs and stomach (edema/ascites).[chop.edu] stature.[britannica.com] […] for their age during childhood and of short stature as an adult).[myvmc.com]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Growth Hormone Deficiency

    We present a case of 21-year-old woman with clinical and radiological characteristics of MAS triad; she presented with short stature which was attributed to both growth hormone[ncbi.nlm.nih.gov] BACKGROUND: The objective of the study was to describe the pituitary volume (PV) in pediatric patients with isolated growth hormone deficiency (IGHD), idiopathic short stature[ncbi.nlm.nih.gov] More complex are issues related to hGH treatment to increase growth rates and heights of otherwise healthy short children with either idiopathic short stature or 'partial'[ncbi.nlm.nih.gov]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[ncbi.nlm.nih.gov] ) above MPS VI Maroteaux–Lamy syndrome ARSB deficiency 253200 ARSB 5q14.1 N-acetylgalactosamine-4-sulfatase Dermatan sulfate Severe skeletal dysplasia, short stature, motor[en.wikipedia.org] Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease.[ncbi.nlm.nih.gov]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Pseudopseudohypoparathyroidism

    She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[doi.org] stature.[ncbi.nlm.nih.gov] stature, short digits, and heterotopic calcifications.[ncbi.nlm.nih.gov]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Pseudohypoparathyroidism Type 1A

    This syndrome is associated with short stature, obesity, brachydactyly, and subcutaneous ossifications.[ncbi.nlm.nih.gov] Our data indicate that GH deficiency is common (69%) in PHP type 1a and may contribute to the obesity and short stature typical of AHO.[ncbi.nlm.nih.gov] We therefore hypothesized that patients with PHP type 1a may be GH deficient which could contribute to the obesity and short stature in this condition.[ncbi.nlm.nih.gov]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale

Similar symptoms