The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

These symptoms are rare, however, when there is no other condition present. Brachydactyly is an inherited condition, which makes genetics the main cause. [healthline.com]

Hand abnormalities were not present in any other family members, and the obligate heterozygous females were without gastrointestinal problems. [pediatrics.aappublications.org]

Rarely, it presents later in childhood with symptoms of severe constipation and failure to thrive. [orpha.net]

Presentation with early sudden neonatal death is rare but should be considered in the diagnostic work-up of sudden deaths in this age group. [link.springer.com]

• Weakness

  In front, it is separated from the bladder in the male, diverticulosis often occurs in the sigmoid colon in association with increased intraluminal pressure and focal weakness in the colonic wall. It is a cause of hematochezia. [wikivisually.com]

  Neoplasia, Type I Multiple Endocrine Neoplasia, Type I, Burin Variant, Prolactinoma, Hyperparathyroid, Carcinoid Syndrome Multiple Endocrine Neoplasia, Type IIA, Pheochromocytoma Multiple Endocrine Neoplasia, Type IV Multiple Epiphyseal Dysplasia Muscle Weakness [sequencing.com]

  Congenital, X-Linked 2 Cataract, Zonular Pulverulent 1 1 Catecholaminergic Polymorphic Ventricular Tachycardia, 1 7 Catecholaminergic Polymorphic Ventricular Tachycardia, 4 5 Catecholaminergic Polymorphic Ventricular Tachycardia, 5, with or without Muscle Weakness [preventiongenetics.com]

• Short Finger

  fingers or toes 0001156 Hypoplastic fingernail Small fingernail Underdeveloped fingernail [ more ] 0001804 Short distal phalanx of the thumb Short outermost bone of the thumb 0009650 Short phalanx of hallux Hypoplastic phalanges of the hallux Short bone [rarediseases.info.nih.gov]

• Hodgkin Lymphoma

  lymphoma Hodgkin's disease Hoepffner Dreyer Reimers syndrome Hollow visceral myopathy Holmes Benacerraf syndrome Holmes Borden syndrome Holmes Collins syndrome Holmes Gang syndrome Holoacardius amorphus Holocarboxylase synthetase deficiency Holoprosencephaly [wikidoc.org]

• 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 [wikidoc.org]

• Alopecia

  […] with mental retardation syndrome type 2 PIGO Hyperphosphatasia with mental retardation syndrome type 3 PGAP2 Hyperphosphatasia with mental retardation syndrome type 4 PGAP3 Hyperphosphatasia with mental retardation syndrome type 5 PIGW Hypogonadism, alopecia [centogene.com]

  […] the liver Hypoglycemia Hypogonadism cardiomyopathy Hypogonadism hypogonadotropic due to mutations in GR hormone Hypogonadism male mental retardation skeletal anomaly Hypogonadism mitral valve prolapse mental retardation Hypogonadism primary partial alopecia [wikidoc.org]

  Areata Alopecia Universalis Congenita Alpers Syndrome Alpers-like Hepatocerebral Syndrome Alpha-1-Antitrypsin Deficiency Alpha-B Crystallinopathy with Cataract Alport Syndrome Alström Syndrome Alzheimer’s Disease, Early-onset (Familial) Amish Infantile [sequencing.com]

  4A 2 Ichthyosis, Congenital, Autosomal Recessive 8 1 Ichthyosis, Congenital, Autosomal Recessive 9 1 Ichthyosis, Congenital, Autosomal Recessive, Nipal4-Related 2 Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis 2 Ichthyosis, Leukocyte Vacuoles, Alopecia [preventiongenetics.com]

• 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 [wikidoc.org]

  Uremic Syndrome Hemophagocytic Lymphohistiocytosis, Familial Hemophilia A Hemophilia B Hemophilia B, Leyden Hemophilia B, Brandenburg Hemorrhagic Diathesis due to Antithrombin Pittsburgh Heparin Cofactor II Deficiency Hepatic Lipase Deficiency Hereditary Angioedema [sequencing.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 [wikidoc.org]

• Brachydactyly

  Name Hirschsprung disease-type D brachydactyly syndrome Ontological Reference MONDO:0016294 Name Hirschsprung disease-type D brachydactyly syndrome Ontological Reference MONDO:0016294 ClinVar Variants View ClinVar Variants External Resources View external [search.clinicalgenome.org]

  MalaCards based summary : Hirschsprung Disease with Type D Brachydactyly, is also known as hirschsprung disease type d brachydactyly. Related phenotypes are aganglionic megacolon and aplastic/hypoplastic toenail Description from OMIM: 306980 [malacards.org]

  Orpha Number: 2150 Disease definition Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). [rarediseases.info.nih.gov]

  Brachydactyly is typically an inherited condition. If you have a family member with brachydactyly, your risk for also having it is much higher. If your child is born with Down syndrome, their risk for brachydactyly is higher. [healthline.com]

  A family in which four males (two brothers and two maternal uncles) had Hirschsprung's disease and absence or hypoplasia of the nails and distal phalanges of the great toe and thumb (type D brachydactyly) is described. [pediatrics.aappublications.org]

• Foot Deformity

  deformity flat facies Hand foot uterus syndrome Hand wringing Rett syndrome Hand-foot-mouth disease Hand-Schuller-Christian disease Hanhart syndrome Hantavirosis Hantavirus pulmonary syndrome Hapnes Boman Skeie syndrome Hard skin syndrome Parana type [wikidoc.org]

• 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 [wikidoc.org]

Management and treatment Treatment is surgical. It consists in resection of the aganglionic segment followed by anastomosis of the proximal bowel to the anal margin (''pullthrough''). [orpha.net]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

Unless there is an accompanying disorder that produces symptoms, or the shortened digits impair the use of hands and feet, there is no treatment needed for brachydactyly. [healthline.com]

It has been described in four males from one family (two brothers and two mater / 721222007 enanismo con braquidactilia, tipo Mseleni Mseleni joint disease SNOMEDCT-ES (trastorno) / 715470008 SNOMEDCT-ES (treatment) / 715470008 braquidactilia brachydactylia [wordscope.com]

Prognosis Overall prognosis is good in most cases, despite issues with constipation and continence even following surgical correction. [orpha.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]

Etiology HSCR is a neurocristopathy and is due to a defect in the development of the enteric nervous system. It is characterized by the absence of neuronal ganglion cells (Cajal cells) (aganglionosis) in the terminal part of the intestine. [orpha.net]

Passarge E (1967a) The genetics of Hirschsprung’s disease: evidence for heterogeneous etiology and a study of sixty-three families. N Engl J Med 276: 138–143 PubMed Google Scholar 30. [link.springer.com]

Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome. Am J Hum Genet. 2003;72(2):465-70. [malattierare.regione.veneto.it]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

Summary Epidemiology HSCR has an estimated annual incidence of 1/5,000 births. Short segment HSCR is more frequent in males. [orpha.net]

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A. 2005;132:352-60. Karmous-Benailly H, Martinovic J, Gubler MC, et al. [rarediseases.org]

Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010). [centogene.com]

Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9): 620-627. Hufnagel RB, Arno G, Hein ND, et al. [rarediseases.org]

The pathophysiology of Hirschsprung’s-associated enterocolitis: importance of histologic correlates. J Pediatr Surg. 1989;24:1271–7. PubMed CrossRef Google Scholar 32. Pini Prato A, Rossi V, Avanzini S, Mattioli G, Disma N, Jasonni V. [link.springer.com]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

Changes in either the EDNRB gene or the EDN3 gene disrupt the normal functioning of the endothelin receptor type B or the endothelin 3 protein, preventing them from transmitting signals important for the development of enteric nerves. [ghr.nlm.nih.gov]