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De Hauwere Syndrome

De Hauwere-Chitty Syndrome


Presentation

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Presented at: American College of Medical Genetics and Genomics 2016 annual clinical genetics meeting; Tampa FL.[massgeneral.org]
  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.es]
  • This association is used to define two forms of the condition 1,8 : not associated with schizencephaly visual apparatus more severely affected hypothalamic-pituitary dysfunction present in 60-80% of patients 6,8 may present as hypoglycemia in the neonatal[radiopaedia.org]
Short Stature
  • Short stature and hyperlaxity of joints later leading to severe joint pain were noted. Mutation analysis of candidate genes known or suspected to be associated with Axenfeld-Rieger eye malformations was performed.[ncbi.nlm.nih.gov]
  • More detailed information about the Symptoms - De Hauwere Leroy Adriaenssens syndrome * Underdeveloped iris * Widely spaced eyes * Mild deafness * Psychomotor retardation * Short stature Causes - De Hauwere Leroy Adriaenssens syndrome Conditions listing[checkorphan.org]
  • Systemic Features: Hypotonia, lax joints, midface hypoplasia, prominent forehead, and short stature have been described. Some, but not all patients have a degree of psychomotor retardation. Mild hearing impairment has been reported.[disorders.eyes.arizona.edu]
Developmental Delay
  • GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM; GDFD Is also known as ; Related symptoms: Autosomal recessive inheritance Seizures Global developmental delay Hearing impairment Microcephaly SOURCES: ORPHANET UMLS OMIM MESH MONDO More[mendelian.co]
  • delay and brain stem dysgenesis Dandy-Walker malformation with facial hemangioma Dandy-Walker malformation with mental retardation basal ganglia disease and seizures Dandy-Walker malformation with mental retardation macrocephaly myopia and brachytelephalangy[personalizedcause.com]
  • delay Partial aniridia Strabismus Telecanthus Unilateral renal agenesis Frequently present symptoms in 30-79% of the cases: Communicating hydrocephalus Corneal opacity Micrognathia Muscular hypotonia Other signs and symptoms include intellectual disability[dovemed.com]
  • Kirghizian type Dermatopathia pigmentosa reticularis Dermatophytids Dermatophytosis Dermochondrocorneal dystrophy of François Dermoodontodysplasia Desbuquois syndrome Desmin related myopathy Desmoid disease Desmoid tumor Desmoplastic small round cell tumor Developmental[wikidoc.org]
  • It may also be associated with developmental delay, or malformations of the heart, face, limbs, fingers, or toes.[findzebra.com]
Physician
  • Publication Detail: Type: Journal Article Journal Detail: Title: Australian family physician Volume: 21 ISSN: 0300-8495 ISO Abbreviation: Aust Fam Physician Publication Date: 1992 Mar Date Detail: Created Date: 1992-07-10 Completed Date: 1992-07-10 Revised[biomedsearch.com]
  • Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and[books.google.es]
  • Because Marshall syndrome is an autosomal dominant hereditary disease, physicians can also note the characteristic appearance of the biological parent of the child. There are no tests for Stickler syndrome or Marshall syndrome.[findzebra.com]
  • In a number of cases, further neurological, gynecological, endocrine, cardiac, or gastrointestinal evaluations were performed by physicians who specialized in these disciplines.[academic.oup.com]
Aniridia
  • Aniridia. J Glaucoma. 2002; 11(2):164-168.[aao.org]
  • Aniridia renal agenesis psychomotor retardation 0 *Psychomotor Disorders *Aniridia Kidney/abnormalities. Megarbane syndrome 0 *Abnormalities, Multiple *Growth Disorders *Hernia *Joint Instability *Psychomotor Disorders.[reference.md]
  • An external file that holds a picture, illustration, etc. .... of PCG, Axenfeld-Rieger syndrome, and aniridia cases do not have known molecular genetic causes. ...... PDF. Loading... About · About Europe PMC · Funders · Joining Europe ...[xlvgjirx.cf]
  • Guía para el estudio genético de la aniridia - ScienceDirect ; Download PDF Download. Share. Export. Advanced ...[ytvlxgue.cf]
Strabismus
  • Hypertelorism, prominent eyes and strabismus have been described. Several patients have had absence of the extraocular muscles. Systemic Features: Hypotonia, lax joints, midface hypoplasia, prominent forehead, and short stature have been described.[disorders.eyes.arizona.edu]
  • J Pediatr Ophthalmol Strabismus. 1986; 23(6):281-283. Margo CE. Congenital aniridia: a histopathologic study of the anterior segment in children. J Pediatr Ophthalmol Strabismus. 1983; 20(5):192-198.[aao.org]
  • […] vary between affected individuals, and may include the following: Very frequently present symptoms in 80-99% of the cases: Anteverted nares Congenital glaucoma Downturned corners of mouth Frontal bossing Mild global developmental delay Partial aniridia Strabismus[dovemed.com]
  • […] expression of HLA class 2 Degenerative motor system disease Degenerative optic myopathy Degos disease Degos 'en cocarde' erythrokeratoderma Dehydratase deficiency Dejerine-Sottas disease Delayed membranous cranial ossification Delayed speech facial asymmetry strabismus[wikidoc.org]
  • APERT SYNDROME Is also known as acs1; acrocephalosyndactyly type 1;acrocephalosyndactyly, type i;acs1, acs i Related symptoms: Intellectual disability Hypertelorism Strabismus Sensorineural hearing impairment Cleft palate SOURCES: ORPHANET More info about[mendelian.co]
Antimongoloid Slant
  • A hereditary disorder occurring in two forms: the complete formFranceschetti 39 s syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma. historia la otra historia de fense ovarian franceschetti hyperstimulation syndrome[cayditomde.tk]
Hearing Impairment
  • Mild hearing impairment has been reported. Genetics This is likely an autosomal dominant disorder in which mutations of the PITX2 and FOXC1 genes common in Axenfeld-Rieger syndrome have been ruled out. No locus has been identified.[disorders.eyes.arizona.edu]
  • Related symptoms: Autosomal dominant inheritance Pica Hearing impairment Sensorineural hearing impairment Milia SOURCES: OMIM More info about VON HIPPEL-LINDAU SYNDROME; VHL Top 5 symptoms//phenotypes associated to Sensorineural hearing impairment and[mendelian.co]
  • Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment. Bmc Medical Genetics. 5: 17.[academictree.org]
Skeletal Dysplasia
  • Anterior segment dysgenesis and skeletal dysplasia associated with a 5 kb FOXC1 deletion: Uncovering the critical region for De Hauwere syndrome. Harvard Medical School Genetics Training Program; Boston, MA. Presented at: 2016 David W.[massgeneral.org]
  • […] neurosensory pituitary dwarfism Deafness nonsyndromic, Connexin 26 linked Deafness oligodontia syndrome Deafness onychodystrophy dominant form Deafness peripheral neuropathy arterial disease Deafness progressive cataract autosomal dominant Deafness skeletal[wikidoc.org]
  • dysplasia lip granuloma Deafness vitiligo achalasia Deafness white hair contractures papillomas Deafness with labyrinthine aplasia microtia and microdontia (LAMM) Deafness X-linked DFN3 Deafness autosomal dominant nonsyndromic sensorineural 17 Deafness[personalizedcause.com]
Hyperlaxity
  • Short stature and hyperlaxity of joints later leading to severe joint pain were noted. Mutation analysis of candidate genes known or suspected to be associated with Axenfeld-Rieger eye malformations was performed.[ncbi.nlm.nih.gov]
Arthralgia
  • We believe that underaged patients ( 16 , 18 patients without widespread myalgias or arthralgias also were excluded.[academic.oup.com]
Muscle Hypotonia
  • Hypotonia *Psychomotor Disorders Fumarate Hydratase/deficiency.[reference.md]
  • Hypotonia Mutation Oculomotor Muscles Transcription Factors Pub Type(s) Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S.[unboundmedicine.com]
Muscular Atrophy
  • ., and Viville, S.. (2003) Duplex PCR for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy. Prenat. Diagn.; 23: 685. Generally useful article for the second most frequent SGD in European populations.[eshre.eu]
Psychomotor Retardation
  • More detailed information about the Symptoms - De Hauwere Leroy Adriaenssens syndrome * Underdeveloped iris * Widely spaced eyes * Mild deafness * Psychomotor retardation * Short stature Causes - De Hauwere Leroy Adriaenssens syndrome Conditions listing[checkorphan.org]
  • De Hauwere Leroy Adriaenssens Syndrome References: De Hauwere RC. et al "Iris dysplasia, orbital hypertelorism, and psychomotor retardation: a dominantly inherited developmental syndrome" J Pediatr. 1973 Apr;82(4):679-81 The statements on this Web site[wellnessadvocate.com]
  • Home De Hauwere Syndrome De Hauwere Syndrome, Psychomotor Retardation and Sensorineural Deafness Iris Dysplasia with Ocular Hypertelorism, Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles-Distinctive Face-Hydrocephaly and Skeletal Abnormalities[xpertdox.com]
  • Some, but not all patients have a degree of psychomotor retardation. Mild hearing impairment has been reported.[disorders.eyes.arizona.edu]
Hypertelorism
  • De Hauwere Leroy Adriaenssens Syndrome References: De Hauwere RC. et al "Iris dysplasia, orbital hypertelorism, and psychomotor retardation: a dominantly inherited developmental syndrome" J Pediatr. 1973 Apr;82(4):679-81 The statements on this Web site[wellnessadvocate.com]
  • Home De Hauwere Syndrome De Hauwere Syndrome, Psychomotor Retardation and Sensorineural Deafness Iris Dysplasia with Ocular Hypertelorism, Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles-Distinctive Face-Hydrocephaly and Skeletal Abnormalities[xpertdox.com]
  • Our database lists the following as having De Hauwere Leroy Adriaenssens syndrome as a symptom of that condition: * Iris dysplasia with ocular hypertelorism, psychomotor retardation and sensorineural deafness * Rieger Syndrome Prevention - De Hauwere[checkorphan.org]
  • Hypertelorism, prominent eyes and strabismus have been described. Several patients have had absence of the extraocular muscles. Systemic Features: Hypotonia, lax joints, midface hypoplasia, prominent forehead, and short stature have been described.[disorders.eyes.arizona.edu]
  • Am J Med Genet. 2001;104(3):221-4 De Hauwere Leroy Adriaenssens syndrome 0 *Hypertelorism *Iris Diseases *Psychomotor Disorders Iris/abnormalities.[reference.md]
Frontal Bossing
  • bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay.[dovemed.com]
  • The children had congenital glaucoma, telecanthus and frontal bossing as well. The parents were not related.[findzebra.com]
  • bossing Downslanted palpebral fissures Micromelia Flat face Abnormality of the genitourinary system Aplasia/Hypoplasia of the thumb Brachyturricephaly Ectopic anus Corneal erosion Esophageal atresia Ovarian neoplasm Absent septum pellucidum Vertebral[mendelian.co]
  • bossing, hypertelorism, facial hemiatrophy, dwarfism, intellectual disability, hypotonia, Alport syndrome, Down syndrome, Marfan syndrome, osteogenesis imperfecta, mucolipidosis type II, the megalocornea-mental retardation syndrome, or other genetic[aao.org]
Congenital Facial Anomaly
  • .: Congenital facial anomalies with neurologic defects. A clinical atlas. Springfield Ill.: Ch. C. Thomas 1969. Google Scholar Bignami, A., Maccagnani, F., Zappella, M., Tingey, A.[link.springer.com]

Treatment

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Treatment Treatment Options: No treatment is available.[disorders.eyes.arizona.edu]
  • Treatment - De Hauwere Leroy Adriaenssens syndrome Not supplied. Resources - De Hauwere Leroy Adriaenssens syndrome Not supplied.[checkorphan.org]
  • In the treatment of Plasmodium falciparum malaria, which has a high mortality if untreated, a greater risk of adverse reactions to antimalarial drugs is inevitable.[karger.com]
  • , and in some cases, due to treatment also.[dovemed.com]

Prognosis

  • Prognosis - De Hauwere Leroy Adriaenssens syndrome Not supplied. Treatment - De Hauwere Leroy Adriaenssens syndrome Not supplied. Resources - De Hauwere Leroy Adriaenssens syndrome Not supplied.[checkorphan.org]
  • (Outcomes/Resolutions) The prognosis of Aniridia Renal Agenesis Psychomotor Retardation Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than[dovemed.com]
  • […] choice for assessing septo-optic dysplasia. may show a "point down" appearance of the lateral ventricular frontal horns on coronal images absent septum pellucidum hypoplastic pituitary stalk hypoplastic optic chiasm/optic nerves and globes Treatment and prognosis[radiopaedia.org]
  • . ; To improve the understanding of Axenfeld-Rieger Malformation ... a more severe prognosis for glaucoma development than do patients with FOXC1 mutations.[ytvlxgue.cf]
  • In cases where glaucoma is absent, the prognosis is usually favorable.[aao.org]

Etiology

  • The exact etiology is unknown, with an underlying genetic defect currently accounting for 9. All imaging modalities that can visualize the septum pellucidum (ultrasound, CT and MRI) will detect its absence in septo-optic dysplasia.[radiopaedia.org]
  • (Etiology) The exact genetic cause of Aniridia Renal Agenesis Psychomotor Retardation Syndrome is not known at the present time The disorder is inherited in an autosomal recessive manner Autosomal recessive: Autosomal recessive conditions are traits or[dovemed.com]
  • Examination of the parents, along with genetic analysis, may be precious tools in providing clues about the etiology of an infant's condition, and may help provide accurate counseling. 36 Congenital iris ectropion Diagnostic features This condition is[aao.org]

Epidemiology

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.es]
  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.es]
  • The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations.[books.google.es]
  • American Academy of Ophthalmology ) Epidemiology This anomaly is rare.[aao.org]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology The molecular genetics of Axenfeld syndrome are poorly understood, and centers on three genes identified by cloning of chromosomal breakpoints from patients.[research.omicsgroup.org]
  • […] follows: Detection of any of these mutations can give patients a clear diagnosis and prenatal procedures such as preimplantation genetic diagnosis, Chorionic villus sampling and Amniocentesis can be offered to patients and prospective parents. [11] Pathophysiology[ipfs.io]
  • Axenfeld syndrome (also known as Axenfeld-Rieger syndrome or Hagedoom syndrome ) is a rare autosomal dominant [2] disorder, which affects the development of the teeth, eyes, and abdominal region. [3] Pathophysiology The molecular genetics of Axenfeld[like2do.com]
  • Axenfeld syndrome is a rare autosomal dominant [2] disorder, which affects the development of the teeth, eyes, and abdominal region. [3] Pathophysiology [ edit ] The molecular genetics of Axenfeld syndrome are poorly understood, but center on three genes[en.wikipedia.org]
  • Crofford, “Evidence For and Pathophysiologic Implications of Hypothalamic-Pituitary -Adrenal Axis Dysregulation in Fibromyalgia and Chronic Fatigue Syndrome,” Annals of the New York Academy of Sciences, Vol. 840, 1998, pp. 684-697. doi:10.1111/j.1749-[scirp.org]

Prevention

  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Our database lists the following as having De Hauwere Leroy Adriaenssens syndrome as a symptom of that condition: * Iris dysplasia with ocular hypertelorism, psychomotor retardation and sensorineural deafness * Rieger Syndrome Prevention - De Hauwere[checkorphan.org]
  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.es]
  • Data show that Barx1 antagonizes Wnt signaling, and Barx1 loss in the mesenchyme prevents stomach epithelial differentiation of overlying endoderm and induces intestine-specific genes instead.[antibodies-online.com]

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