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685 Possible Causes for Juvenile Familial Leg Ulcers, Pulmonary Hypoplasia and Dysplasia

  • Waters-West Syndrome

    Ulcers, Familial, of Juvenile Onset OMIM:220111 Leigh Syndrome, French Canadian Type; LSFC OMIM:256000 Leigh Syndrome; LS OMIM:150700 Leiomyoma of Vulva and Esophagus OMIM[] Hydroureter (extremely dilated left ureter), bilateral renal dysplasia. The child died of pulmonary hypoplasia: m. Down, hydronephrosis, Macro, autopsy (72962) M.[] […] sclerotic bones Iris hypoplasia and glaucoma Pulmonary alveolar microlithiasis Meningocele Hereditary methemoglobinemia Buschke Ollendorff syndrome Dermatopathia pigmentosa[]

  • Pulmonary Hypoplasia and Dysplasia

    Congenital acinar dysplasia: a rare cause of pulmonary hypoplasia. Histopathology. 1998 Jan;32(1):57-9. PMID: 9522217 Rutledge JC, Jensen P.[] Etiology/Pathophysiology: A congenital skeletal dysplasia can cause thoracic constriction that leads to limitation of lung development and bilateral pulmonary hypoplasia.[] They do not mention cases with pulmonary hypoplasia.[]

    Missing: Juvenile Familial Leg Ulcers
  • Atresia of Urethra

    If the obstruction is severe and of long-standing, progressive renal parenchymal fibrosis and dysplasia develop, resulting in severe oligohydramnios, pulmonary hypoplasia,[] In severe cases, oligohydramnios or anhydramnios may ensue, predisposing the fetus to limb abnormalities and pulmonary hypoplasia.[] (Fig. 2 ), as well as pulmonary hypoplasia [ 1, 2 ].[]

    Missing: Juvenile Familial Leg Ulcers
  • Congenital Unilateral Pulmonary Hypoplasia

    Severe primary pulmonary hypoplasia (“acinar dysplasia”) in sibs: a genetically determined mesodermal defect?. J Med Genet 1998; 35: 964-965 28 Al-Senan KA. Kattan AK.[] They do not mention cases with pulmonary hypoplasia.[] Diagnosis Code Q33.6 Congenital hypoplasia and dysplasia of lung 2016 2017 2018 2019 Billable/Specific Code POA Exempt Type 1 Excludes pulmonary hypoplasia associated with[]

    Missing: Juvenile Familial Leg Ulcers
  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    The ribs share in the dysplasia but pulmonary hypoplasia has also been described. Most individuals have short limbs.[] 4.Pulmonary hypoplasia 5.At least one characteristic associated anomaly: polyhydramnios, cloudy corneas and/or microphthalmia, orofacial clefting, brain malformation, cardiovascular[] Renal abnormalities: renal hypoplasia or renal dysplasia or urinary tract dysplasia, dual system with ureteral duplicated, with or without ureterocele, megaureter are also[]

    Missing: Juvenile Familial Leg Ulcers
  • Perinatal Lethal Gaucher Disease

    Pediatr Dermatol. 2016 Jan-Feb;33(1):e20-2. doi: 10.1111/pde.12733. Epub 2015 Dec 8. Author information 1 Medical School, University of Mississippi Medical Center, Jackson, Mississippi. 2 Department of Dermatology, University of Mississippi Medical Center, Jackson, Mississippi. 3 Department of Pediatrics, University of[…][]

    Missing: Juvenile Familial Leg Ulcers
  • Laryngo-Tracheo-Esophageal Cleft


    Missing: Juvenile Familial Leg Ulcers
  • Hypophosphatasia

    Antenatal determinants of lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia.[] Guguloth, Aswani, and Anandpara: Prenatal diagnosis of hypophosphatasia congenita using ultrasonography Abstract Congenital hypophosphatasia is a rare fatal skeletal dysplasia[]

    Missing: Juvenile Familial Leg Ulcers
  • Hydrops Fetalis

    The cyst impeded the inferior vena caval and umbilical venous circulations and impinged upon the thoracic cavity with resultant pulmonary hypoplasia.[] This malformation, which might be termed "cystic dysplasia" of the vagina, represents an extreme form of hydrometrocolpos that resulted in hydrops fetalis.[]

    Missing: Juvenile Familial Leg Ulcers
  • Stuve-Wiedemann Syndrome

    dysplasia Phokomelie ( 1 Files ) Erkrankung: Phokomelie ICD 10: Q71.1 (phocomelia upper limb), Q72.1 (phocomelia lower limb), Q73.1 (phocomelia unspecifed limb) Synonyme[] Arthrogryposis multiplex congenita with pulmonary hypoplasia Pfeiffer syndrome ( 1 Files ) Disease name: Pfeiffer syndrome ICD 10: Q87.0 Snyonyms: ACS5, Acrocephalosyndactyly[] hypoplasia Pfeiffer Syndrom ( 1 Files ) Erkrankung: Pfeiffer Syndrom ICD 10 : Q87.0 Synonyme : ACS5, Acrocephalosyndactyly type V, noack syndrome, cranio-facialdermatological[]

    Missing: Juvenile Familial Leg Ulcers

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