We present a 36-year-old female with short stature, rhizomelic and asymmetric limb shortening, severe scoliosis, a sectorial cataract, and no family history of CDPX2. [jhu.pure.elsevier.com]

The X-linked recessive form presents as mental retardation, short stature and mild ichthyosis; there are also no eye lesions. As described above, each of these symptoms presents with a unique constellation of clinical symptoms. [dermatologyadvisor.com]

This supplementary information is presented as submitted by the corresponding author. It has not been copy-edited by NTvG. [ntvg.nl]

( kon-rah'dē hin'ĕr-mahn ), one of the syndromes of chondrodysplasia punctata (q.v.), autosomal dominant, with variable skin keratinization disorders and facial, cardiac, optic, and central nervous system abnormalities; epiphyseal stippling is also present [medical-dictionary.thefreedictionary.com]

• Saddle Nose

  The disorder recognized by Hünermann also included micromelia, a saddle nose deformity, flexion contractures, cataracts, and a dermopathy. [mhmedical.com]

  The severe form is characterised by marked congenital rhizomelic dwarfism, flexion contractures of large joints, small chest and saddle nose deformity. Asymmetrical limb shortening and kyphoscoliosis become prominent with age. [ijri.org]

• Failure to Thrive

  This is the only manifestation in most patients with HIDS, and, in the case of classical mevalonic aciduria, is part of a severe multisystemic disease, including malformations, severe failure to thrive and neurological abnormalities. [thieme-connect.com]

  All affected infants have severe failure to thrive, mental retardation, joint contractures, and cataracts. [mhmedical.com]

  […] to Thrive Fairbank Disease - Multiple Epiphyseal Dysplasia Familial Dysautonomia Fanconi Anemia Fetal Alcohol Syndrome and Support Fetal Anti-Convulsant Syndrome Fetal Veapkote Syndrome / Fetal Balproate Acid Syndrome Froelich's Syndrome Gerneralized [magicfoundation.org]

  […] to thrive SOURCES: OMIM ORPHANET MENDELIAN More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Low match CARDIOFACIOCUTANEOUS SYNDROME Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital [mendelian.co]

  Affected infants may fail to grow and gain weight at the rate expected for age and gender (failure to thrive). Growth deficiencies may ultimately result in a final adult height that is below normal (short stature). [rarediseases.org]

• Hearing Impairment

  XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Is also known as xp6|xp, group f|xeroderma pigmentosum vi Related symptoms: Intellectual disability Short stature Hearing impairment Microcephaly Scoliosis SOURCES: MESH OMIM MENDELIAN More info about [mendelian.co]

  impairment heart defects mental retardation mid-face abnormalities kidney malformations prematurity punctate vertebrae (dotted appearance in x rays) short and in-curving fingers shortened limbs Diagnosis For parents who know that they are carriers of [encyclopedia.com]

• Alopecia

  Scalp involvement results in patchy, scarring alopecia. [escholarship.org]

  Short stature in combination with ichthyosis or alopecia, cataracts, and limb shortening in an adult should prompt consideration of a diagnosis of CDPX2. [jhu.pure.elsevier.com]

  When examined, the mother had linear alopecia, said to have been present from birth. She also had ichthyosis during childhood and a difference in leg length for which she had undergone several orthopaedic corrections. [ntvg.nl]

  A 5-year-old girl presented for evaluation of ill-defined patches of cicatricial alopecia. In addition, subtle follicular atrophoderma, esotropia, craniofacial asymmetry and short stature were noted. [ncbi.nlm.nih.gov]

  A 5-year-old girl presented for evaluation of ill-defined patches of cicatricial alopecia. In addition, subtle follicular atrophoderma, esotropia… CONTINUE READING [semanticscholar.org]

• Dry, Scaly Skin

  Harris Skin and Cancer Pavilion in February, 2009, for evaluation of dry skin and pruritus. She was born with red, scaly skin that persisted until approximately one year of age, when the erythema was replaced by pigmentary alteration. [escholarship.org]

• Short Neck

  Synopsis stippled epiphyseal calcification (epiphyseal stippling) dwarfism flat facies depressed nasal bridge cataract short neck flexion contracture foot deformation ichtyosiform dermatitis Clinical types Greenberg dysplasia dappled diaphysis dysplasia [humpath.com]

  The clinical features in the milder form are nonspecific like mongoloid face, snub nose, slanting of the eyes, short neck and trunk, cataract and mild skeletal deformities. Dwarfism is not severe. [ijri.org]

  Figure 1 Clinical photo taken at the age of 2 months showed short neck, and predominantly rhizomelic shortening of the upper and lower limbs. Note left femur more severely affected than the right. [hkjpaed.org]

  Such features have included abnormal calcifications and potential narrowing (stenosis) of the windpipe (trachea) and/or the larynx, which connects the throat and the trachea; an unusually short neck; abnormalities of the nails; various structural malformations [rarediseases.org]

• Wide Flat Nose

  Congenital (sectoral) cataract, midface hypoplasia, wide/flat nose, hypothelorism and structural brain anomalies with mental retardation can be present. Sometimes there is a linear alopecia. [ntvg.nl]

• Clitoromegaly

  Genitourinary lesions commonly present as hydronephrosis, cryptorchidism and clitoromegaly. Hydronephrosis can be diagnosed by renal ultrasound. Urology or gynecology referral should be made if any of these symptoms are found. [dermatologyadvisor.com]

• Dyslipidemia

  Since isotretinoin is associated with severe systemic side effects, eg, teratogenicity, hepatic dysfunction, dyslipidemia, visual changes, pseudotumor cerebri, etc, the risk/benefit ratio should be carefully weighed before initiating treatment. [dermatologyadvisor.com]

Treatment progress The treatment was started after achieving the IJ stage, when the patient was 14 years and 10 months old. [cyberleninka.org]

Treatment - Conradi-Hunermann syndrome Treatment can involve operations to lengthen the leg bones, which involves many visits to the hospital. Other symptoms can be treated with medicine or surgery. [checkorphan.org]

Decisions about use of a new treatment, or about a change in your current treatment plan, should be in consultation with your doctor or other healthcare professional. [healthetreatment.com]

Management and treatment Management is multidisciplinary. Treatment of skin lesions includes the use of emollients and keratolytics (i.e. ammonium lactate 12%, petrolatum ointment). [orpha.net]

What are the available treatments for Conradi-Hünermann syndrome? Unfortunately, there is no cure for Conradi-Hünermann syndrome as of yet, so treatment is directed towards managing the symptoms of the condition and supporting its’ patients. [patientworthy.com]

Prognosis - Conradi-Hunermann syndrome Not supplied. Treatment - Conradi-Hunermann syndrome Treatment can involve operations to lengthen the leg bones, which involves many visits to the hospital. [checkorphan.org]

Treatment and prognosis While prognosis is variable, the rhizomelic forms can be lethal 3. [radiopaedia.org]

Incontinentia pigmenti Lab Bone films Neonatal skin biopsy may reveal calcium in the epidermis with von Kossa's stain Peroxisomal function in cultured fibroblasts Management Referral to orthopedist, dermatologist, ophthalmologist Examine first degree relatives Prognosis [cram.com]

Prognosis Prognosis of chondrodysplasia punctata depends on the type. The rhizomelic form of this disorder has a very poor prognosis. [encyclopedia.com]

A possible role for homeobox-containing genes in the etiology of this type of chondrodysplasia punctata is suggested as an explanation for the coincidence of these two syndromes. [tandfonline.com]

Etiology CDPX2 is due to mutations in the EBP gene (Xp11.23-p11.22) encoding the emopamil binding protein (EBP), which acts as a delta8-delta7-sterol isomerase that catalyzes the conversion of 8(9)-cholestenol to lathosterol in the distal cholesterol [orpha.net]

Etiology CDPX2 is caused by mutations in the gene encoding delta8-delta7-sterol isomerase emopamil-binding protein (EBP) at Xp11.23-p11.22. [dermatologyadvisor.com]

Summary Epidemiology Annual incidence has been estimated to be at least 1/400,000 births with 95% of patients being female. Clinical description 'Congenital ichthyosiform erythroderma is the typical neonatal manifestation. [orpha.net]

Pathophysiology The molecular mechanism by which mutation of EBP gene causes this characteristic syndrome remains unknown. [dermatologyadvisor.com]

Prevention - Conradi-Hunermann syndrome Not supplied. Diagnosis - Conradi-Hunermann syndrome signs and symptoms of Conradi-Hunermann syndrome may vary on an individual basis for each patient. [checkorphan.org]

The children’s physiatrist had prescribed semi-orthopedic anti-varus shoes with correction for her difference in leg length to stimulate her walking independently and prevent further feet deformities. [ntvg.nl]

Orthopedic measures, including surgery in severe cases, is recommended to help prevent or correct the skeletal abnormalities that are associated with the disorder (craniofacial malformations, scoliosis, etc.). [patientworthy.com]

To help, prevent, or correct certain skeletal malformation, orthopedic measures and surgeries are recommended. Also for craniofacial malformations, scoliosis or other physical abnormalities surgery might be advised. [conradihunermannsyndrome.weebly.com]

Audience: Paediatricians, neurologists, clinical biochemists, pathologists, genetic counsellors, obstetricians, and GPs interested in the recognition, diagnosis and prenatal prevention of peroxisomal disorders. [books.google.ro]