[…] recessive cutis laxa type 1C Urban-Rifkin-Davis syndrome Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Neonatal ICD-10: Q82.8 OMIM: 613177 UMLS: C2750804 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

Of the 17 affected individuals (from 13 families) reported to date, cutis laxa was evident from birth in most and pulmonary emphysema was present in all. [ncbi.nlm.nih.gov]

Other features in these children include an enlarged anterior fontanel, dislocation of the hips that is present at birth, hernias, and nearsightedness. Many individuals with this condition have severe developmental delay and seizures. [cutislaxa.org]

• Swelling

  MalaCards based summary : Cutis Laxa, Autosomal Recessive, Type Ic, also known as cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities, is related to cutis laxa and ltbp4-related cutis laxa, and has symptoms including periorbital swelling [malacards.org]

  […] description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). http://www.omim.org/entry/613177 From HPO Hydronephrosis MedGen UID: 42531 •Concept ID: C0020295 • Disease or Syndrome Abnormal enlargement or swelling [ncbi.nlm.nih.gov]

• Anemia

  La talasemia mayor se asocia con esplenomegalia y anemia. [genaden.com]

• Weakness

  There can also be muscle weakness, and intelligence ranges from low normal to mild mental retardation. OHS is a disorder of copper metabolism caused by mutations (changes) in the ATP7A gene. [cutislaxa.org]

• Prolapse

  Rectal prolapse MedGen UID: 11151 •Concept ID: C0034888 • Disease or Syndrome Protrusion of the rectal mucous membrane through the anus. [ncbi.nlm.nih.gov]

• Fracture

  Other features include a small jaw, hip dislocations, hernias, osteoporosis, fractures, and dwarfism. As with ARCL3, there are typically neither cardiovascular nor pulmonary symptoms. [cutislaxa.org]

• Cutis Laxa

  For general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). (613177) MalaCards based summary : Cutis Laxa, Autosomal Recessive, Type Ic, also known as cutis laxa with severe pulmonary [malacards.org]

  Homepage Rare diseases Search Search for a rare disease Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Disease definition A rare, genetic, dermis elastic tissue disorder characterized by generalized cutis laxa associated with [orpha.net]

  HOW IS CUTIS LAXA INHERITED ? Cutis laxa (CL) is inherited in many different ways, depending on the type of cutis laxa. There are autosomal dominant (AD), autosomal recessive (AR), and X-linked recessive (XLR) forms of inherited cutis laxa. [cutislaxa.org]

  LTBP4-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective disorder such as inguinal hernias and hollow visceral diverticula [ncbi.nlm.nih.gov]

• Apraxia

  APTX Ataxia con apraxia oculomotora e hipoalbuminemia de inicio temprano AR DESCRIPCIÓN Ataxia con apraxia oculomotora e hipoalbuminemia de inicio temprano: Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid [genaden.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

ARE THERE ANY AVAILABLE TREATMENTS FOR CUTIS LAXA ? After initial diagnosis, patients with cutis laxa typically receive cardiovascular and pulmonary evaluations, such as echocardiograms and lung function testing. [cutislaxa.org]

Pyloric stenosis MedGen UID: 18780 •Concept ID: C0034194 • Pathologic Function Narrowing of the pyloric canal with varied etiology. A common form is due to muscle hypertrophy (PYLORIC STENOSIS, HYPERTROPHIC) seen in infants. [ncbi.nlm.nih.gov]

Management of individuals with cutis laxa includes treatment of symptoms, such as surgical repair of hernias, medications such as beta-blockers may be considered to prevent growth of aortic aneurysms, and pulmonary emphysema is treated symptomatically [cutislaxa.org]

It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER. [ncbi.nlm.nih.gov]