Congenital cardiac defects, ichthyosis, and hypertrichosis may be present. The skin over the dorsum of the hands and feet often appears dark. Ataxia is sometimes present and MRIs may reveal vermal and cerebellar hypoplasia. [disorders.eyes.arizona.edu]

Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. [ncbi.nlm.nih.gov]

Paper presented at the Annual Meeting of the American Society of Human Genetics, San Francisco, October 19-23 [20] Hockey A (1986) X-linked intellectual handicap and precocious puberty with obesity in carrier females. [dentisty.org]

Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype. J Med Genet. 2003;40:e129. Aughton DJ, Kelley RI, Metzenberg A, et al. [rarediseases.org]

• Short Stature

  stature 91 [27] Stevenson Xq12-q21.2 Hypotonia, areflexia, tapered fingers, arches increased, genu valgum 92 [28] Stevenson dominant, lethal in males microcephaly, short stature, hypotelorism, small ears, short philtrum, small mandible, small hands and [dentisty.org]

  Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [ncbi.nlm.nih.gov]

  Related documents Proportionate Short stature Using and interpreting the CDC Growth Charts An approach to short stature The Common Genet Short Men, Short Shrift Growing in Stature 2013 - Geylang Methodist Primary School An autosomal recessive form of [studylib.net]

  H syndrome was characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss was also found in about half of patients, and many had short stature. [mendelian.co]

  […] palm or similar symptoms may include: 2 Aarskog syndrome (Short palm) Aarskog-Scott syndrome (Short palm) Achondrogenesis type 1A (Short palm) Acrocapitofemoral dysplasia (Short palm) Acrodysostosis type 1 with or without hormone resistance ... ... [familydiagnosis.com]

• Multiple Congenital Anomalies

  Congenital Anomalies Syndrome Congenital Disorder Of Glycosylation, Type IIg Cousin Syndrome Cranioectodermal Dysplasia Cranioectodermal Dysplasia 1 Cranioectodermal Dysplasia 2 Desmosterolosis Distal Trisomy 17q Dyggve-Melchior-Clausen Disease Fibrochondrogenesis [familydiagnosis.com]

  MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME; CHIME High match IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. [mendelian.co]

  Homozygous FIBP truncating mutation in a new multiple congenital anomalies syndrome with overgrowth, macrocephaly, Iris coloboma, and learning disabilities. (ESHG Milan, Mai-Juin 2014). [gad-bfc.org]

• Low Set Ears

  Affiliated tissues include bone, and related phenotypes are low-set ears and frontal bossing [malacards.org]

  Low-set ears MedGen UID: 65980 •Concept ID: C0239234 • Congenital Abnormality Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. [ncbi.nlm.nih.gov]

  set ears / posteriorly rotated ears - Metacarpal anomalies / Archibald's sign - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Rhizomelic micromelia - Short foot / brachydactyly of toes - Short hand / brachydactyly [csbg.cnb.csic.es]

  […] of the zygomatic bone Abnormal heart valve morphology Craniosynostosis Metaphyseal chondrodysplasia Severe platyspondyly Metaphyseal cupping of metacarpals Hypoplasia of the calcaneus Cutis laxa Hyperextensible skin Encephalopathy Nephrotic syndrome Low-set [mendelian.co]

• Skin Fissure

  fissures - Macrostomia / big mouth - Micrognathia / retrognathia / micrognathism / retrognathism - Short philtrum [csbg.cnb.csic.es]

• Photophobia

  The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. [mendelian.co]

  Night blindness and severe photophobia are features in some cases. Both retinal and choroidal atrophy have been diagnosed in the first 5 years of life and most patients have a progressive and extensive pigmentary retinopathy. [disorders.eyes.arizona.edu]

• Blepharitis

  […] impairment Absent septum pellucidum Atonic seizures Intestinal obstruction Abnormality of the vertebral column Unilateral renal agenesis Bifid scrotum Hydroureter Abnormality of the hand Urticaria Multicystic kidney dysplasia Abnormality of dental enamel Blepharitis [mendelian.co]

• Platyspondyly

  UniProtKB/Swiss-Prot : 76 Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia: A disease characterized by chondrodysplasia, severe platyspondyly, hydrocephaly, and facial features with microphthalmia. [malacards.org]

  Radiographs showed severe platyspondyly and various bone abnormalities including a… CONTINUE READING [semanticscholar.org]

  エントリ H02260 名称 Chassaing-Lacombe 型軟骨異形成症; Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 概要 Chassaing-Lacombe 型軟骨異形成症は、扁平脊椎・特異的短指・水頭症および小眼球を伴う軟骨異形成症としても知られている。本疾患は HDAC6 遺伝子変異に起因し、X連鎖優性形式で遺伝する。 [genome.jp]

  distinctive brachydactyly, hydrocephaly, and microphthalmia (CDP-PBHM) [MIM:300863]: A disease characterized by chondrodysplasia, severe platyspondyly, hydrocephaly, and facial features with microphthalmia. [genecards.org]

  Platyspondyly MedGen UID: 335010 •Concept ID: C1844704 • Finding A flattened vertebral body shape with reduced distance between the vertebral endplates. [ncbi.nlm.nih.gov]

• Macrocephaly

  Macrocephaly MedGen UID: 745757 •Concept ID: C2243051 • Finding Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. [ncbi.nlm.nih.gov]

  Clin Dysmorphol 4:289-293 [22] Johnson JP, Nelson R, Schwartz CE (1998) A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-q21. [dentisty.org]

  50% cases Abnormality of the dentition Hearing impairment Microphthalmia Epicanthus Depressed nasal bridge Autosomal recessive inheritance Sparse hair Seizures Hypertelorism Abnormality of the kidney Hydronephrosis Oxycephaly Hypotrichosis Erythema Macrocephaly [mendelian.co]

  Download full-text PDF Source http://doi.wiley.com/10.1002/pd.4022 Publisher Site http://dx.doi.org/10.1002/pd.4022 DOI Listing March 2013 A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly [pubfacts.com]

  A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome. Am J Med Genet A. 2012 Nov;158A(11):2849-56. 33. [mrgm.u-bordeaux.fr]

• Small Hand

  […] ears, short philtrum, small mandible, small hands and feet, and mild cognitive impairment 93 [29] Stoll Short stature, prominent forehead, hypertelorism, broad nasal tip, anteverted nares 94 [30] Tariverdian Acromegaly, CNS anomalies, macroorchidism [dentisty.org]

• Frontal Bossing

  Affiliated tissues include bone, and related phenotypes are low-set ears and frontal bossing [malacards.org]

  Frontal bossing MedGen UID: 67453 •Concept ID: C0221354 • Congenital Abnormality Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. [ncbi.nlm.nih.gov]

  Diseases related with Frontal bossing and Ichthyosis In the following list you will find some of the most common rare diseases related to Frontal bossing and Ichthyosis that can help you solving undiagnosed cases. [mendelian.co]

  […] dominant External references: 1 OMIM reference - No MeSH references Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Flattened nose - Frontal [csbg.cnb.csic.es]

  Frontal bossing has been noted in some patients. Pituitary dysfunction is suggested by low growth hormone levels, features of hypogonadotropic hypogonadism, and possibly hypothyroidism. [disorders.eyes.arizona.edu]

• Mental Deterioration

  Regardless, mannosidosis is relentlessly progressive with mental deterioration and motor disabilities. Ataxia is a common feature. [disorders.eyes.arizona.edu]

  deterioration Respiratory tract infection Camptodactyly of finger Umbilical hernia Photophobia Dementia Recurrent infections X-linked recessive inheritance Aplastic clavicle Recurrent respiratory infections Respiratory distress Inguinal hernia Cerebellar [mendelian.co]

• Global Developmental Delay

  CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1 Is also known as cfc syndrome, cfcs;cfc syndrome Related symptoms: Autosomal dominant inheritance Intellectual disability Seizures Global developmental delay Short stature SOURCES: UMLS ORPHANET SCTID MONDO OMIM More [mendelian.co]

Treatment Treatment Options: No effective treatment is known. [disorders.eyes.arizona.edu]

Sterol levels are measured by gas chromatography - mass spectrometry. [5] Screening [ edit ] Genetic screening for Conradi-Hünermann syndrome via the EBP Gene is offered by multiple providers. [6] [7] Treatment [ edit ] Treatment can involve operations [en.wikipedia.org]

Shuttleworth SJ, Bailey SG, Townsend PA. (2010) Histone Deacetylase inhibitors: new promise in the treatment of immune and inflammatory diseases. Curr Drug Targets, 11 (11): 1430-8. [PMID:20583972] 30. [guidetopharmacology.org]

Consult your personal physician or other professional health care provider when seeking individualized treatment regarding your medical diagnosis or condition. [varsome.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. [uniprot.org]

PMID: 12634559 Prognosis Cardoso ML, Barbosa M, Serra D, Martins E, Fortuna A, Reis-Lima M, Bandeira A, Balreira A, Marques F Clin Genet 2014 Feb;85(2):184-8. Epub 2013 Apr 5 doi: 10.1111/cge.12139. [ncbi.nlm.nih.gov]

Given this, there is an urgent need to develop novel effective strategies for the diagnosis, treatment, and prognosis of HCC. [docslide.com.br]

Depending upon how extensive the organ involvement, the prognosis is usually guarded and patients may not live beyond early childhood. It is uncertain if IFAP refers to a single disorder or if two disorders are involved (see Genetics). [disorders.eyes.arizona.edu]

FGFR1 has an amplification of 9%–15% in breast cancer and its amplified expression is generally associated with poor prognosis and relapse. [wikivisually.com]

Etiology Al-Gazali LI, Bakir M, Hamid Z, Varady E, Varghes M, Haas D, Bener A, Padmanabhan R, Abdulrrazzaq YM, Dawadu A Birth Defects Res A Clin Mol Teratol 2003 Feb;67(2):125-32. doi: 10.1002/bdra.10009. [ncbi.nlm.nih.gov]

Chromosomal anomalies in the etiology of anorectal malformations: A review American Journal of Medical Genetics, Part A. 155: 2692-2704. [academictree.org]

It is a heterogeneous disease due to complicated etiology involving both genetic and environmental factors. [docslide.com.br]

[…] hypertension Limited cutaneous systemic sclerosis Synonym(s): - X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): (no data available) Epidemiological [csbg.cnb.csic.es]

Carpenter 22 Working group on epidemiology & prevention of the european society of cardiology P. A. Sullivan, D. Murphy, P. A. Sullivan, S. Keogh, P. A. Sullivan, P. Nash, M. M. Kaarisalo, J. Marttila, P. Immonen-Raiha, V. Salomaa, J. Torppa, J. [booksc.usunblock.today]

Liu Department of Epidemiology, Public Health School of Central South University, Changsha 410078, China e-mail: [email protected] J. Xue e-mail: [email protected] Y. [docslide.com.br]

Management of emergency care for patients with FBN1 gene mutation: epidemiological study. (ESHG - Barcelona, Mai 2016) A. Sorlin, A. Maruani, Y. Duffourd, P. Kuentz, M. Chevarin, J. St-Onge, T. Jouan, C. Thauvin-Robinet, L. Faivre, J. Rivière, P. [gad-bfc.org]

Carpenter 22 Working group on epidemiology & prevention of the european society of cardiology P. A. Sullivan, D. Murphy, P. A. Sullivan, S. Keogh, P. A. Sullivan, P. Nash, M. M. Kaarisalo, J. Marttila, P. Immonen-Raiha, V. Salomaa, J. Torppa, J. [booksc.usunblock.today]

A lack of c-met disrupts secondary myogenesis and—as in LBX1—prevents the formation of limb musculature and this local action of FGFs with their RTK receptors is classified as paracrine signalling. [wikivisually.com]

Interacts with RIPOR2; this CC interaction occurs during early myogenic differentiation and CC prevents HDAC6 to deacetylate tubulin (PubMed:24687993). [genome.jp]