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]

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]

( 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]

• Surgical Procedure

  One year and 5 months later of starting treatment, the patient was referred to surgical procedure. [cyberleninka.org]

  The surgical procedures performed will depend on the nature, severity, and combination of anatomical abnormalities, their associated symptoms, and other factors. [rarediseases.org]

• Recurrent Infection

  Some infants with Conradi-Hünermann syndrome are susceptible to recurrent infections. [rarediseases.org]

• Multiple Congenital Anomalies

  A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. Am J Med Genet A 2010; 152A: 2838–2844. Google Scholar Happle R. [medicaljournals.se]

  A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. Am. J. Med. Genet. A 152A:2838-2844. 6. Offiah, A. C., S. Mansour, I. Jeffrey. 2003. [cyberleninka.org]

  A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. Am J Med Genet A. 2010;152A:2838–44. Article CAS Google Scholar Arnold AW, Bruckner-Tuderman L, Has C, Happle R. Conradi–Hünermann–Happle syndrome in males vs. [nature.com]

• Saddle Nose

  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]

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

  However, all three can share systemic manifestations such as short necks, frontal bossing, saddle noses, high arched palates and hypertelorism. [healio.com]

  Systemic features of chondrodysplasia punctata include stippling of the epiphyses, shortening of the femur and humerus, congenital cataracts, and saddle nose. [accesspediatrics.mhmedical.com]

• 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]

  Failure to thrive MedGen UID: 746019 •Concept ID: C2315100 • Disease or Syndrome Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. [ncbi.nlm.nih.gov]

  […] 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]

  […] 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]

• Diarrhea

  Enuresis nocturna Bronchitis Restrictive ventilatory defect Pulmonary fibrosis Emotional lability Clumsiness Specific learning disability Otitis media Arthritis Respiratory failure Abdominal pain Elevated alpha-fetoprotein Intraventricular hemorrhage Diarrhea [mendelian.co]

  It is important to note whether the baby has other systemic issues including: vomiting, diarrhea, failure to thrive, and hepatomegaly. If the baby remains untreated, mental retardation and death may occur. [entokey.com]

• Abdominal Pain

  pain Elevated alpha-fetoprotein Intraventricular hemorrhage Diarrhea Muscle cramps Seborrheic keratosis Cholangiocarcinoma Morphological abnormality of the central nervous system Verrucae Freckling Bone marrow hypocellularity Microdontia Prominent nose [mendelian.co]

• High Arched Palate

  Facial dysmorphism (low nasal bridge, frontal bossing, hypertelorism, high arched palate) is common. Joint contractures affecting the hips, hands and feet are frequent. Talus valgus and other deformities may be seen. [orpha.net]

  Conradi disease - congenital shortening of the humerus and femur, with stippled epiphyses, high-arched palate, cataracts, erythroderma in the newborn, and scaling followed by follicular atrophoderma. [medical-dictionary.thefreedictionary.com]

  However, all three can share systemic manifestations such as short necks, frontal bossing, saddle noses, high arched palates and hypertelorism. [healio.com]

• Esotropia

  In addition, subtle follicular atrophoderma, esotropia… CONTINUE READING [semanticscholar.org]

  In addition, subtle follicular atrophoderma, esotropia, craniofacial asymmetry and short stature were noted. Her history revealed widespread scaly erythema and eye surgery for congenital cataract in the first months of life. [ncbi.nlm.nih.gov]

  […] forehead Depressed nasal bridge Low-set ears Abnormality of skin pigmentation Microcornea Joint dislocation Hemivertebrae Abnormal vertebral morphology Rhizomelia Abnormality of epiphysis morphology Limb undergrowth Dandy-Walker malformation Hip dysplasia Esotropia [mendelian.co]

• 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]

  Hearing impairment MedGen UID: 235586 •Concept ID: C1384666 • Disease or Syndrome A decreased magnitude of the sensory perception of sound. [ncbi.nlm.nih.gov]

  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]

  The hearing impairment in this disease is progressive and due to neurosensory deafness. Keratitis begins during childhood and is accompanied by neovascularization. Visual loss may be severe. [accesspediatrics.mhmedical.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. [hgsc.bcm.edu]

  Keywords: EBP gene; alopecia; genodermatosis; ichthyosis; trichoscopy. © 2022 Wiley Periodicals LLC. References REFERENCES Cañueto J, Girós M, Ciria S, et al. [pubmed.ncbi.nlm.nih.gov]

  As a child she had linear ichthyosis, difference in leg length and congenital alopecia in a linear pattern. CONCLUSION For diagnosis and treatment of children with such a rare syndrome a multidisciplinary approach is essential. [wwww.unboundmedicine.com]

• Hyperkeratosis

  The salient histologic feature was marked hyperkeratosis with deep invagination of the dilated pilosebaceous ostia nearly to the level of the hair bulb. [jamanetwork.com]

  Skin biopsies from 2 infants with the classical features of Conradi‐Hunermann syndrome including ichthyosiform erythroderma contained hyperkeratosis, dilated ostia of pilosebaccous structures, and calcium salts in the stratum corneum detectable with special [onlinelibrary.wiley.com]

  Figure 12–8 Figure 12–9 This figure illustrates the abdomen of a patient with epidermolytic hyperkeratosis. [accesspediatrics.mhmedical.com]

  At birth, patients often exhibit severe erythroderma with striated hyperkeratosis arranged in whorls and swirls following the lines of Blaschko. [link.springer.com]

• Skin Atrophy

  Skin changes of FDH are the primary diagnostic features. There is linear, punctate, and streaky cribriform atrophy with telangiectasia as in this patient. The cribriform atrophy is marked by tiny ice pick-like depressions in the skin. [hindawi.com]

  Comparative evaluation of skin atrophy in man produced by topical corticosteroids. Br J Dermatol 1979;100:193–206. Cross Ref link Pubmed link 67 Barnes L, Kaya G, Rollason V. Topical corticosteroid‐induced skin atrophy: a comprehensive review. [rooksdermatology.com]

• Compulsive Behavior

  […] hair Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Neurofibromas Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Hydroureter Open bite Anal stenosis Absent eyebrow Obsessive-compulsive [mendelian.co]

  Pachydermodactyly: reflecting obsessive‐compulsive behavior? Arch Dermatol 1994;130:387. Cross Ref link Pubmed link 498 Chamberlain AJ, Venning VA, Wojnarowska F. Pachydermodactyly: a forme fruste of knuckle pads? Australas J Dermatol 2003;44:140–3. [rooksdermatology.com]

• Compulsive Disorder

  Conradi-Hünerman-Happle Syndrome and Obsessive-Compulsive Disorder: a clinical case report. de Jesus S, Costa ALR, Almeida M, Garrido P, Alcafache J. de Jesus S, et al. BMC Psychiatry. 2023 Feb 6;23(1):87. doi: 10.1186/s12888-023-04579-1. [pubmed.ncbi.nlm.nih.gov]

• Short Neck

  This new born had many features corresponding to a dysplasic neonatal nanism, icthisyform syndrome, femur asymmetrical shortening, polydactily, short neck, clinodactily on right hand, and periarticular calcifications mainly in shoulders and knee, plathiespondily [medigraphic.com]

  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]

  Her neck, legs and arms appeared short, with the left leg shorter than right. [healio.com]

• Hypertelorism

  […] deformity, Sprengel's deformity, Wallis Zieff Goldblatt syndrome ) knee ( Genu valgum, Genu varum ) other Arthrogryposis Skull and facial bones Carpenter syndrome - Craniodiaphyseal dysplasia - Craniosynostosis ( Scaphocephaly ) - Crouzon syndrome - Hypertelorism [wikidoc.org]

  Facial dysmorphism (low nasal bridge, frontal bossing, hypertelorism, high arched palate) is common. Joint contractures affecting the hips, hands and feet are frequent. Talus valgus and other deformities may be seen. [orpha.net]

  However, all three can share systemic manifestations such as short necks, frontal bossing, saddle noses, high arched palates and hypertelorism. [healio.com]

  Craniofacially, a combination of dysmorphic features might be encountered in children with chondrodysplasia punctata such as asymmetric head, frontal bossing, flat nasal bridge, dysplastic auricles, mongoloid palpebral fissures, hypertelorism, and high [ispub.com]

Further workup may be indicated in some children but should be done with the assistance of a developmental pediatrician or geneticist to focus the testing for improving the likelihood of a positive result (Tables 11.2 and 11.3). [entokey.com]

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

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]

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 - 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]

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]

However, this patient had findings suggestive of a hereditary etiology, which initially prompted the ophthalmic consultation, and further tests were done. [healio.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]

The visual significance of the cataract depends on several factors including age of onset, location, etiology, and morphology. Etiology of Childhood Cataracts The etiology of childhood cataracts is vast (Table 11.1). [entokey.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]

The epidemiology of progressive encephalopathies in childhood: live birth prevalence in West Sweden. Neuropediatrics 1992; 23:209-211. Crossref, Medline, Google Scholar Article History Published in print: Oct 1999 [pubs.rsna.org]

Skin aging induced by ultraviolet exposure and tobacco smoking: evidence from epidemiological and molecular studies. Photodermatol Photoimmunol Photomed 2001;17:178–83. Cross Ref link Pubmed link Actinic elastosis 9 Kligman AM. [rooksdermatology.com]

In this case report, we discuss the trichoscopic findings in a 3-year-old girl with CHHS and how these findings help us understand the pathophysiology of this disease. [pubmed.ncbi.nlm.nih.gov]

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

Cutaneous scarring: pathophysiology, molecular mechanisms, and scar reduction therapeutics. Part II. Strategies to reduce scar formation after dermatologic procedures. J Am Acad Dermatol 2012;66:13–24. [rooksdermatology.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]

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]

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]

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]

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]