The book describes best practices in training and service delivery and presents evidence-based approaches to intervention with children and families. All chapters have been rigorously peer reviewed by experts in the field. [books.google.com]

[…] onset: Neonatal ICD-10: Q56.3 OMIM: 600122 UMLS: C2931233 MeSH: - GARD: 4550 MedDRA: - A summary on this disease is available in Deutsch (2006) Italiano (2006) Español (2020) Français (2020) Nederlands (2020) The documents contained in this web site are presented [orpha.net]

Affected individuals often present with primary amenorrhea. [invitae.com]

Megalocornea is present at birth (congenital) and usually is bilateral. Although the cornea is abnormally enlarged, it is otherwise normal in structure, curvature and thickness. [rarediseases.org]

The results from targeted genetic testing of 326 patients with DSD (and 129 of their family members) from a wide spectrum of clinical presentations (the largest known such cohort) are presented. [genomebiology.biomedcentral.com]

• Disability

  Male pseudohermaphroditism intellectual disability syndrome, Verloes type alone. [rareguru.com]

  How is intellectual disability diagnosed? Intellectual disability may be suspected for many different reasons. [webmd.com]

  Intellectual Disability: Causes and Characteristics, HealthyPlace. [healthyplace.com]

  National Center for Advancing Translational Sciences Home Browse by Disease Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type Other Names: Disorder of sex [rarediseases.info.nih.gov]

  Homepage Rare diseases Search Search for a rare disease Disorder of sex development-intellectual disability syndrome Disease definition A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability [orpha.net]

• Short Stature

  She was slightly mentally impaired and had microphthalmia and large ears, and short stature. She had a complete uterus with tubae and a single intraabdominal gonad with testicular organization at birth. These were removed during infancy. [malacards.org]

  stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). [orpha.net]

• Developmental Delay

  In children with developmental delays, the doctor will perform tests to rule out other problems, including hearing problems and certain neurological disorders. [webmd.com]

  Their developmental milestones, especially speech development, are delayed. After puberty, the characteristic phenotypical features may appear. They include an oblong face, prominent ears and jaw, and macroorchidism. [emedicine.medscape.com]

  Smith of the University of Washington Medical School in Seattle found a pattern of "craniofacial, limb, and cardiovascular defects associated with prenatal onset growth deficiency and developmental delay" in children of alcoholic mothers, now called fetal [en.wikipedia.org]

• Trisomy 21

  The characteristic phenotype of Down syndrome is basically the same in trisomy 21 and in translocation. [emedicine.medscape.com]

  21, also known as Down syndrome. [en.wikipedia.org]

• Macrocephaly

  In other cases, affected individuals may have a disproportionally large head (macrocephaly). [rarediseases.org]

  The forehead is large and quadrangular with relative macrocephaly. Macro-orchidism is almost invariable in DNA-confirmed post-pubertal males (Lachiewicz & Dawson 1994). [intellectualdisability.info]

  Brunner HG, Wade PA, Fisher SE and Campeau PM Nature communications 2018 ; 9 ; 1 ; PUBMED: 30397230 ; PMC: 6218476 ; DOI: 10.1038/s41467-018-06014-6 De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly [ddduk.org]

• Iridodonesis

  Some affected individuals have additional abnormalities affecting the eyes including underdevelopment (hypoplasia) of the colored portion of the eyes (iris), abnormal “unsteadiness” of the irises during eye movements (iridodonesis), and/or other ocular [rarediseases.org]

• Visual Impairment

  The various eye abnormalities can potentially lead to varying degrees of visual impairment. [rarediseases.org]

• Visual Impairment

  The various eye abnormalities can potentially lead to varying degrees of visual impairment. [rarediseases.org]

• Fear

  Date: March 12, 2014 please note, this video has no audio View PowerPoint Content Sexual development is a natural part of the life course of any individual but can cause particular fear and misunderstanding among parents and staff of people with intellectual [aaidd.org]

  Children with Williams syndrome often show no fear of strangers. They can be too friendly and empathetic for their own good. Children with Williams syndrome typically prefer the company of adults to peers. [mentalhelp.net]

• Broad Nasal Bridge

  nasal bridge, a long upper lip, an abnormally small lower jaw (hypoplastic mandible), and/or unusually large and/or “cup-shaped” ears. [rarediseases.org]

• Hypertelorism

  Additional findings may include an unusually prominent forehead (frontal bossing), widely spaced eyes (ocular hypertelorism), downwardly slanting eyelid folds (palpebral fissures), vertical skin folds between the inner corners of the eyes and the nose [rarediseases.org]

• Frontal Bossing

  Additional findings may include an unusually prominent forehead (frontal bossing), widely spaced eyes (ocular hypertelorism), downwardly slanting eyelid folds (palpebral fissures), vertical skin folds between the inner corners of the eyes and the nose [rarediseases.org]

• Poor Coordination

  In addition to eye abnormalities, affected individuals may also have neurological abnormalities including diminished muscle tone (hypotonia), delays in speech development, varying degrees of cognitive impairment, poor coordination and clumsiness, and [rarediseases.org]

• Involuntary Movements

  Less often, additional neurological symptoms may occur including hyperactivity, seizures, and involuntary movements of the face, arms and legs (limbs), and trunk consisting of slow, continual, writhing movements (athetosis) occurring in association with [rarediseases.org]

• Choreoathetoid Movements

  […] more rapid, jerky movements (choreoathetoid movements). [rarediseases.org]

• Clumsiness

  In addition to eye abnormalities, affected individuals may also have neurological abnormalities including diminished muscle tone (hypotonia), delays in speech development, varying degrees of cognitive impairment, poor coordination and clumsiness, and [rarediseases.org]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Treatment The family and the team of doctors will determine the best way to help the child have a happy and healthy life. This may include treatment with medications or surgery. In some cases, there is no treatment needed. [healthychildren.org]

The treatment of emotional and behavioral problems. In: FXS: Diagnosis, treatment, and research, 3rd ed, Hagerman, RJ, Hagerman, PJ (Eds), Johns Hopkins University Press, Baltimore 2002. p.339-362 22. Lachiewicz AM, Dawson DV. [intellectualdisability.info]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

When it is connected with fetal developmental deviations, the prognosis depends on the infant's general condition. [emedicine.medscape.com]

Genetic counselling aims to educate families about the syndrome, its implications and prognosis, supporting them in making informed decisions about the future and in dealing with the emotional impact of the diagnosis. [intellectualdisability.info]

Etiology, clinical profile, gender identity and long-term follow up of patients with ambiguous genitalia in India. Journal of Pediatric Endocrinology and Metabolism, 15, 423–430. PubMed CrossRef Google Scholar Berenbaum, S. A. (1999). [link.springer.com]

Implementation of this panel in a large cohort of patients has expanded our understanding of the underlying genetic etiology of DSD. [genomebiology.biomedcentral.com]

Epidemiology It has been described in only three patients, including two sibs. Clinical description The first patient had profound intellectual deficit. [rareguru.com]

Epidemiology There are about 100–200 affected births in the UK each year. The population prevalence is estimated at 1 in 4000 males and 1 in 8000 females (Hagerman and Hagerman, 2002). It occurs in all races and ethnic groups. [intellectualdisability.info]

Epidemiology and initial management of ambiguous genitalia at birth in Germany. Horm Res. 2006;66:195–203. PubMed Google Scholar Ohnesorg T, Vilain E, Sinclair AH. The genetics of disorders of sex development in humans. Sex Dev. 2014;8:262–72. [genomebiology.biomedcentral.com]

New to This Edition: *Chapters on rural health, the transition to adult medical care, prevention, and disorders of sex development. *Expanded coverage of epigenetics, eHealth applications, cultural and ethnic diversity, spina bifida, and epilepsy. [books.google.com]

Atlanta, Georgia: Centers for Disease Control and Prevention; December, 2010. Fact Sheet, U of M LEND Program, 2012-2013, Jessica Nelson [aaidd.org]

Can intellectual disability be prevented? Certain causes of intellectual disability are preventable. The most common of these is fetal alcohol syndrome. Pregnant women shouldn’t drink alcohol. [webmd.com]

Other endocrine problems may include underproduction of thyroid hormone (hypothyroidism) or central adrenal insufficiency, which prevents the body from responding appropriately during stress or infections. Cognitive impairment. [mayoclinic.org]