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Hirschsprung Disease - Nail Hypoplasia - Dysmorphism

Al Gazali Hirschsprung Syndrome


Presentation

  • We present serial MR imaging findings in the brain and ... 252 Congenital blindness and osteoporosis-pseudoglioma syndrome.[biomedsearch.com]
  • A congenital anomaly is defined as a structural defect, present at birth and different from the norm.[accesspediatrics.mhmedical.com]
  • The degree of associated visual impairment depends upon the severity and/or combination of eye abnormalities present.[rarediseases.org]
  • When the result of the triple test is positive, the likelihood of Down syndrome is 2%. 5 When these abnormalities are present together with fetal ultrasonographic evidence of nuchal translucency (caused by subcutaneous edema at the base of the skull),[consultant360.com]
  • Case Report First Online: 14 May 2008 185 Downloads 4 Citations Abstract We present a preterm-born girl with polydactyly of both hands and massive hydrometrocolpos, the latter due to vaginal atresia.[doi.org]
Fever
  • Diagnosis - Hirschsprung nail hypoplasia dysmorphism Cold & Flu: Home Testing: * Home Fever Tests * Home Ear Infection Tests * Home Flu Tests Prognosis - Hirschsprung nail hypoplasia dysmorphism Not supplied.[checkorphan.org]
  • […] disease Hemoglobin SC disease Hemoglobinopathy Hemoglobinuria Hemolytic anemia lethal genital anomalies Hemolytic-uremic syndrome Hemophagocytic lymphohistiocytosis Hemophagocytic reticulosis Hemophilia A Hemophilic arthropathy Hemophobia Hemorragic fever[academickids.com]
  • […] with renal syndrome Hemorrhagic fever Hemorrhagic proctocolitis Hemorrhagic thrombocythemia Hemorrhagiparous thrombocytic dystrophy Hemosiderosis Hemothorax Hen Hennekam Beemer syndrome Hennekam Koss de Geest syndrome Hennekam syndrome Hennekam Van der[wikidoc.org]
Nail Abnormality
  • Overview A rare disorder characterized by Hirschsprung disease (an intestinal disorder), nail abnormalities and facial anomalies Symptoms - Hirschsprung nail hypoplasia dysmorphism * Enlarged colon * Stillbirth * Low-set ears * Small jaw * Recessed jaw[checkorphan.org]
Surgical Procedure
  • Although many surgical procedures are available to eliminate epicanthal folds, scarring on the medial canthus is still an obstacle for surgeons to overcome.[biomedsearch.com]
Hyposmia
  • […] the tibia with polydactyly Hypoplastic left heart syndrome Hypoplastic right heart microcephaly Hypoplastic thumb mullerian aplasia Hypoplastic thumbs hydranencephaly Hypoproconvertinemia Hypoprothrombinemia Hypor-Hypox Hyporeninemic hypoaldosteronism Hyposmia[academickids.com]
  • […] polydactyly * Hypoplastic left heart syndrome * Hypoplastic right heart microcephaly * Hypoplastic thumb mullerian aplasia * Hypoplastic thumbs hydranencephaly * Hypoproconvertinemia * Hypoprothrombinemia Hypor-Hypox * Hyporeninemic hypoaldosteronism * Hyposmia[en.academic.ru]
Constipation
  • Symptoms - Hirschsprung nail hypoplasia dysmorphism * Enlarged colon * Stillbirth * Low-set ears * Small jaw * Recessed jaw * Infant death * Underdeveloped ends of fingers * Underdeveloped fingernails * Hyperconvex fingernails * Abnormal ear shape * Severe constipation[checkorphan.org]
High Arched Palate
  • arched palate (86%) and reports of cleft palate • Late eruption of widely spaced teeth (86%) • Micrognathia (84%) 55. 02/25/15 Sid 55 56. 02/25/15 Sid 56 Apert Syndrome • Craniostenosis • Large late-closing fontanels • Gaping midline defect • Flattened[slideshare.net]
  • Macroglossia, fissures, furrowed tongue, and a high arched palate. Teeth. Delayed eruption, microdontia, and hypoplastic and hypocalcified teeth. Neck. Short neck with loose overlying skin. Skin. Cutis marmorata, xerosis, and hyperkeratosis.[consultant360.com]
Foot Deformity
  • […] syndrome Halal Setton Wang syndrome Halal syndrome Hall Riggs mental retardation syndrome Hallermann Streiff syndrome Hallervorden-Spatz disease Hamanishi Ueba Tsuji syndrome Hamano Tsukamoto syndrome Hamartoma sebaceus of Jadassohn Han-Hay Hand and foot[academickids.com]
  • Setton Wang syndrome Halal syndrome Hall Riggs mental retardation syndrome Hallermann Streiff syndrome Hallervorden-Spatz disease Hallux valgus Hamanishi Ueba Tsuji syndrome Hamano Tsukamoto syndrome Hamartoma sebaceus of Jadassohn Han-Hay Hand and foot[wikidoc.org]
  • […] syndrome * Halal syndrome * Hall Riggs mental retardation syndrome * Hallermann Streiff syndrome * Hallervorden-Spatz disease * Hallux valgus * Hamanishi Ueba Tsuji syndrome * Hamano Tsukamoto syndrome * Hamartoma sebaceus of Jadassohn Han-Hay * Hand and foot[en.academic.ru]
Hypoplastic Nails
  • Names and Terminology for Al Gazali Hirschsprung syndrome Synonyms HIRSCHSPRUNG DISEASE WITH HYPOPLASTIC NAILS AND DYSMORPHIC FACIAL FEATURES ; Hirschsprung's disease , hypoplastic nails, and dysmorphic facial features Source: GTR (NCBI/NIH) 1 • • • Back[familydiagnosis.com]
  • Alternate Names Hirschsprung's Disease, Hypoplastic Nails, And Dysmorphic Facial Features is also known as Hirschsprung's Disease, Hypoplastic Nails, And Minor Dysmorphic Features.[novusbio.com]
  • nails Clinical features from OMIM: 235760 MalaCards organs/tissues related to Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features: 42 Skin Search GEO for disease gene expression data for Hirschsprung Disease with Hypoplastic Nails[malacards.org]
  • Home » Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome? SOURCE Journal of Medical Genetics;Nov1988, Vol. 25 Issue 11, p758 SOURCE TYPE Academic Journal ABSTRACT No abstract available.[connection.ebscohost.com]
  • nails and dysmorphic facial features (MIM.235760) type D brachydactyly (MIM.306980) ulnar polydactyly, polysyndactyly of big toes and ventricular septal defect (MIM.235750) polydactyly (supernumerary digits) Hirschsprung disease with mental retardation[humpath.com]
Partial Alopecia
  • alopecia Hypogonadism retinitis pigmentosa Hypogonadism, isolated, hypogonadotropic Hypogonadism Hypogonadotropic hypogonadism syndactyly Hypogonadotropic hypogonadism without anosmia, X linked Hypogonadotropic hypogonadism-anosmia, X linked Hypogonadotropic[academickids.com]
  • alopecia * Hypogonadism retinitis pigmentosa * Hypogonadism, isolated, hypogonadotropic * Hypogonadism * Hypogonadotropic hypogonadism syndactyly * Hypogonadotropic hypogonadism without anosmia, X linked * Hypogonadotropic hypogonadism-anosmia, X linked[en.academic.ru]
Angioedema
  • […] non-A non-B Hepatitis non-A Hepatitis non-B Hepatitis, chronic autoimmune Hepatitis Hepatoblastoma Hepatocellular carcinoma Hepatorenal syndrome Hepatorenal tyrosinemia Her Here Hered Heredi Hereditary a-Hereditary m Hereditary amyloidosis Hereditary angioedema[academickids.com]
  • Hepatitis non-A * Hepatitis non-B * Hepatitis, chronic autoimmune * Hepatitis * Hepatoblastoma * Hepatocellular carcinoma * Hepatorenal syndrome * Hepatorenal tyrosinemia Her Here Hered Heredi Hereditary a-Hereditary m * Hereditary amyloidosis * Hereditary angioedema[en.academic.ru]
Hyperhidrosis
  • […] cataracts Hypergeusia Hyperglycerolemia Hyperglycinemia, isolated nonketotic type 1 Hyperglycinemia, isolated nonketotic type 2 Hyperglycinemia, isolated nonketotic Hyperglycinemia Hypergonadotropic ovarian failure, familial or sporadic Hyperh-Hyperk Hyperhidrosis[academickids.com]
  • Hypergeusia Hyperglycemia Hyperglycerolemia Hyperglycinemia, isolated nonketotic type 1 Hyperglycinemia, isolated nonketotic type 2 Hyperglycinemia, isolated nonketotic Hyperglycinemia Hypergonadotropic ovarian failure, familial or sporadic Hyperh-Hyperk Hyperhidrosis[wikidoc.org]
  • Hyperglycemia * Hyperglycerolemia * Hyperglycinemia, isolated nonketotic type 1 * Hyperglycinemia, isolated nonketotic type 2 * Hyperglycinemia, isolated nonketotic * Hyperglycinemia * Hypergonadotropic ovarian failure, familial or sporadic Hyperh-Hyperk * Hyperhidrosis[en.academic.ru]
Low Set Ears
  • Overview A rare disorder characterized by Hirschsprung disease (an intestinal disorder), nail abnormalities and facial anomalies Symptoms - Hirschsprung nail hypoplasia dysmorphism * Enlarged colon * Stillbirth * Low-set ears * Small jaw * Recessed jaw[checkorphan.org]
  • set ears, downslanting eyes, small mandible, hypogonadism Short stature, FTT, Trigonocephaly, microcephaly, micrognathia, upslanting eyes, oral frenula, thick alveolar ridges, macrostomia, CHD (VSD, PDA), anamolous ribs, short limbs, transverse limb[quizlet.com]
  • set ears • Simian crease • Ventricular septal defect (VSD) • Atrial septal defect (ASD) • Patent ductus arteriosus (PDA) • Hernias: umbilical hernia, inguinal hernia • Undescended testicle (cryptorchidism) • Hypotonia • Micrognathia o Skeletal (limb)[slideshare.net]
  • He had neck webbing, simple and low-set ears and retrognathia, hypoplasia of the distal fingers and toes, left talipes equinovarus and right talipes equinovalgus, mild right hydronephrosis with pelviureteric obstruction, and bilateral cryptorchidism ([nature.com]
Round Face
  • face congenital retarded development Heart defect tongue hamartoma polysyndactyly Heart defects limb shortening Heart hand syndrome Spanish type Heart hypertrophy, hereditary Heart situs anomaly Heart tumor of the adult Heart tumor of the child Heavy[academickids.com]
  • face congenital retarded development * Heart defect tongue hamartoma polysyndactyly * Heart defects limb shortening * Heart hand syndrome Spanish type * Heart hypertrophy, hereditary * Heart situs anomaly * Heart tumor of the adult * Heart tumor of the[en.academic.ru]
Narrow Face
  • face • Malar hypoplasia • Micrognathia • Retrognathia • Enophthalmos • Ectopia lentis • Myopia • Retinal detachment • Early glaucoma • Early cataracts • Down-slanting palpebral fissures • High-arched palate • Aortic regurgitation • Mitral regurgitation[slideshare.net]

Treatment

  • Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.com]
  • Treatment - Hirschsprung nail hypoplasia dysmorphism Not supplied. Resources - Hirschsprung nail hypoplasia dysmorphism Hirschsprung nail hypoplasia dysmorphism: Another name for Al Gazali Hirschsprung syndrome[checkorphan.org]
  • Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here.[pediascape.org]
  • W8MD Aesthetic Services… IM and IV nutrition therapy includes booster shots for B12, vitamin B complex, Vitamin C, Detox treatments and IV nutrition therapy.[wikimd.org]
  • Without appropriate treatment, elevated fluid pressure may lead to gradual loss of peripheral vision, increased narrowing of visual fields, and eventual blindness. Other eye (ocular) abnormalities may also be associated with NPS.[rarediseases.org]

Prognosis

  • Diagnosis - Hirschsprung nail hypoplasia dysmorphism Cold & Flu: Home Testing: * Home Fever Tests * Home Ear Infection Tests * Home Flu Tests Prognosis - Hirschsprung nail hypoplasia dysmorphism Not supplied.[checkorphan.org]
  • Furthermore, unrealistic counseling may be given about prognosis and recurrence risk. Only a few common MCA syndromes are life-threatening in the neonatal period.[accesspediatrics.mhmedical.com]
  • The prognosis depends mainly on... The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity.[connection.ebscohost.com]
  • […] referrals and evaluations • Evaluate other at risk family members 9. 02/25/15 Sid 9 Approach to Birth Defects & Congenital Anomalies • Recognize associated abnormalities and medical problems • Make an accurate diagnosis • Give an accurate, realistic prognosis[slideshare.net]
  • Guthrie M E - - 2001 The prognosis for congenital esotropia remains guarded. Monofixation syndrome currently is the best widely reported result following surgery.[biomedsearch.com]

Etiology

  • Synonyms al gazali-donnai-muller syndrome hirschsprung disease - nail hypoplasia - dysmorphism Etiology Please input defination information here. Diagnosis Please input defination information here. Symptoms Please input defination information here.[pediascape.org]
  • 02/25/15 Sid 6 • Dysmorpholgy: study of abnormal forms • Dysmorphic: abnormal appearing • Congenital: at birth • Anomaly: abnormality • Just because it’s congenital it doesn’t mean it’s genetic • One goal of the dysmorphologist is help determine the etiology[slideshare.net]
  • Etiology Hirschsprung disease genes RET GDNF NTRN SOX10 EDNRB EDN3 ECE1 ZFHX1B phox2b TCF4 HSCR1: dominant mutations in the RET gene (MIM.164761) in 3% of isolated sporadic Hirschsprung’s disease HSCR2 at 13q22: recessive mutation in the EDNRB gene coding[humpath.com]
  • Underlying etiologies for MCA syndromes include chromosomal abnormalities, monogenic disorders, multifactorial disorders, and unknown. The diagnostic approach to MCA syndromes in neonates is no different from that in older children.[accesspediatrics.mhmedical.com]
  • […] higher if spontaneous and therapeutic abortion isconsidered.More than 75% of pregnancies with a trisomy 21 fetus are spontaneouslyaborted early in pregnancy. 4,5 There is no association with paternal age, birth order, ethnicity, or country of birth. 6 ETIOLOGY[consultant360.com]

Epidemiology

  • EPIDEMIOLOGY The overall incidence is approximately 1 in 700 live births. 3 The risk of Down syndrome is directly related tomaternal age.[consultant360.com]
  • An epidemiological study of Hirschsprung disease in a multiracial California population. The third international Meeting: Hirschsprung disease and related neurocristopathies, Evian, France, 1998. 13. Russell MB, Russell CA, Fenger K, Niebuhr E.[indianpediatrics.net]
Sex distribution
Age distribution

Pathophysiology

  • We describe a possible pathophysiologic mechanism for chylous ascites that developed several months after menarche in a woman with acrocephalosyndactyly and congenital lymphatic dysplasia. CASE: ... 278 Congenital adrenal hyperplasias.[biomedsearch.com]

Prevention

  • Prevention - Hirschsprung nail hypoplasia dysmorphism Not supplied.[checkorphan.org]
  • Radiographs to investigate for atlantoaxial instability should be obtained when the child is 3 to 5 years old.Appropriate skin care should be discussed. 8 Regular dental care helps prevent periodontal disease.[consultant360.com]
  • […] abnormalities and medical problems • Make an accurate diagnosis • Give an accurate, realistic prognosis and natural history of the disorder to the family • Discuss options and alternatives for management • Deliver appropriate medical care and/or treatment • Prevent[slideshare.net]

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