It will be interesting to see if other cases also have the c.500T>C mutation present. [dnatesting.uchicago.edu]

Acronym CHIME Synonyms CHIME syndrome Glycosylphosphatidylinositol biosynthesis defect 5 GPIBD5 Zunich neuroectodermal syndrome Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes [uniprot.org]

(unknown) - - 0 - - CHIME;GPIBD5 She presented craniofacial dysmorphism, bilateral colobomas of the retina, sparse and fine hair, hearing loss, ichthyosiform erythroderma, mental retardation, ear anomalies, brachydactyly, and broad second toes. [databases.lovd.nl]

Conductive deafness was revealed by the hearing test and retinal defect was found in fundus examination.Whole exome sequencing test identified PIGL(NM_004278)gene compound hybrid variation.The frameshift variation c. 26delT was present in one allele, [pesquisa.bvsalud.org]

Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. [ncbi.nlm.nih.gov]

• Heart Disease

  Entry H01487 Disease Name CHIME syndrome; Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome; Zunich neuroectodermal syndrome Supergrp Inherited glycosylphosphatidylinositol deficiencies [DS:H01489 [genome.jp]

  MalaCards organs/tissues related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome: 40 Heart, Eye, Kidney, Brain ClinVar genetic disease variations for Coloboma, Congenital Heart Disease, Ichthyosiform [malacards.org]

  (unknown) - - 0 - - CHIME;GPIBD5 FEatures included ocular colobomas, congenital heart disease, early onset migratory ichthyosiform dermatosis, mental retardation, conductive hearing loss, seizures, and typical facial features. [databases.lovd.nl]

  Full title CHIME syndrome Synonyms Zunich-Kaye syndrome_x000D_ Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome_x000D_ PIGL-CDG_x000D_ Neuroectodermal dysplasia, CHIME type_x000D_ Congenital disorder [retkebolesti.com]

  The main features include ocular colobomas, congenital heart disease, early onset migratory ichthyosiform dermatosis, mental retardation, conductive hearing loss, seizures, and typical facial features. [jmg.bmj.com]

• Hearing Impairment

  Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound. [rarediseases.oscar.ncsu.edu]

  Conductive hearing impairment MedGen UID: 9163 •Concept ID: C0018777 • Disease or Syndrome An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. [ncbi.nlm.nih.gov]

• Sparse Hair

  Characteristic facial features include brachycephaly; fine, sparse hair; hypertelorism; epicanthal folds; small, low set or cupped ears; flat, broad nasal root and tip; short philtrum; and wide mouth with full lips. [dnatesting.uchicago.edu]

  Fine hair MedGen UID: 98401 •Concept ID: C0423867 • Finding Hair that is fine or thin to the touch. Sparse hair MedGen UID: 1790211 •Concept ID: C5551005 • Finding Reduced density of hairs. [ncbi.nlm.nih.gov]

• Large Hand

  Large hands MedGen UID: 98097 •Concept ID: C0426870 • Finding Long foot MedGen UID: 154365 •Concept ID: C0576225 • Finding Increased back to front length of the foot. [ncbi.nlm.nih.gov]

• Hypertelorism

  […] by early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma, conductive hearing loss, seizures, intellectual disability, and characteristic facial features: brachycephaly, mild upslanting of the palpebral fissures, pale blue irides, hypertelorism [retkebolesti.com]

  Hypertelorism MedGen UID: 9373 •Concept ID: C0020534 • Finding Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. [ncbi.nlm.nih.gov]

  Characteristic facial features include brachycephaly; fine, sparse hair; hypertelorism; epicanthal folds; small, low set or cupped ears; flat, broad nasal root and tip; short philtrum; and wide mouth with full lips. [dnatesting.uchicago.edu]

  Results: (1) The boy, 1 year old and 3 months, developed seizures at the age of 7 months, when he received rehabilitation due to developmental delay.Physical examination showed that the boy had facial dysmorphisms, including high forehead, ocular hypertelorism [pesquisa.bvsalud.org]

  (6) ear anomalies and mild to moderate conductive hearing loss secondary to increased desquamation in the auditory canal; (7) genitourinary abnormalities (hydronephrosis, bicornuate uterus); and (8) dysmorphic features consisting of brachycephaly, hypertelorism [link.springer.com]

• Seizure

  Medical Term Other Names Description Seizures Epilepsy Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance [rarediseases.oscar.ncsu.edu]

  He showed delayed psychomotor skills including speech and had conductive hearing loss and a seizure disorder. At 10 years, his skin showed mild erythema, with lamellated, ichthyosiform changes. [databases.lovd.nl]

  The main features include ocular colobomas, congenital heart disease, early onset migratory ichthyosiform dermatosis, mental retardation, conductive hearing loss, seizures, and typical facial features. [jmg.bmj.com]

  Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties. [uniprot.org]

  A severe polymalformative syndrome involving early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma, seizures, and mental retardation. [accessanesthesiology.mhmedical.com]

• Convulsions

  […] intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive [rarediseases.oscar.ncsu.edu]

(May 2017) Treatment[edit] Treatment with isotretinoin may induce substantial resolution of skin lesions, but the risk of secondary infection remains.[2] See also[edit] List of cutaneous conditions References[edit] ^ Zunich J, Kaye CI (1983). [en.wikipedia.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

[…] type_x000D_ Congenital disorder of glycosylation due to PIGL deficiency_x000D_ Neuroectodermal syndrome, Zunich type Name in a foreign language - Inheritance Autosomal recessive CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment [retkebolesti.com]

Legend How to query Individual ID ID_report Reference Remarks Gender Consanguinity Country Population Age at death VIP Data_av Treatment Disease Phenotype details Genes screened Variants in genes Variants Panel size Owner 00025123 - PubMed: Ng 2012 Index [databases.lovd.nl]

PMID: 9295069 Prognosis Shashi V, Zunich J, Kelly TE, Fryburg JS J Med Genet 1995 Jun;32(6):465-9. doi: 10.1136/jmg.32.6.465. [ncbi.nlm.nih.gov]

Etiology CHIME syndrome is caused by mutations in the glycosylphosphatidylinositol gene PIGL located to 17p12-p11.2. Differential diagnosis - Diagnostic methods - Antenatal diagnosis - Epidemiology Prevalence is unknown. [retkebolesti.com]

[…] system Broad-based gait Cerebral atrophy Intellectual disability Seizure Violent behavior Ear malformation Conductive hearing impairment Overfolded helix Growth abnormality Growth abnormality Large for gestational age Neoplasm Acute lymphoid leukemia Etiology [ncbi.nlm.nih.gov]

Differential diagnosis - Diagnostic methods - Antenatal diagnosis - Epidemiology Prevalence is unknown. To date, CHIME syndrome has been described in 8 cases. Genetic counseling Transmission is autosomal recessive. [retkebolesti.com]

A clinical, genetic and epidemiological study. Clin Genet. 1981 Apr;19(4):233–256. [PubMed] [Google Scholar] Senter TP, Jones KL, Sakati N, Nyhan WL. Atypical ichthyosiform erythroderma and congenital neurosensory deafness--a distinct syndrome. [ncbi.nlm.nih.gov]

A clinical, genetic, and epidemiological study. Clin Genet 19: 233–256. PubMed CAS Google Scholar Julius CE, Keeran M (1971) Netherton’s syndrome in a male. Arch Dermatol 104: 422–424. [link.springer.com]

It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. [ncbi.nlm.nih.gov]