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]

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]

A child may present with a DSD in infancy, childhood or adolescence. Previously, DSDs were called "intersex" conditions. This means "between the sexes." [healthychildren.org]

• Coarse Facial Features

  facial features Coarse facial appearance 0000280 Male pseudohermaphroditism 0000037 Narrow palpebral fissure Small opening between the eyelids 0045025 Obesity Having too much body fat 0001513 Postnatal growth retardation Growth delay as children 0008897 [rarediseases.info.nih.gov]

  facial features 33 HP:0000280 24 absent speech 33 HP:0001344 25 postnatal growth retardation 33 HP:0008897 26 chorioretinal coloboma 33 HP:0000567 27 abnormality of the face 60 Very frequent (99-80%) 28 abnormal hair pattern 60 Very frequent (99-80%) [malacards.org]

• Genu Valgum

  Showing of 31 80%-99% of people have these symptoms Deeply set eye Deep set eye Deep-set eyes Sunken eye [ more ] 0000490 Downturned corners of mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714 Genu valgum Knock knees 0002857 Hypogonadism [rarediseases.info.nih.gov]

  […] phenotypes related to Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type: 60 33 (show all 32) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470 2 genu [malacards.org]

• Hearing Impairment

  […] posteriorly rotated ears 0000368 Microtia Small ears Underdeveloped ears [ more ] 0008551 Reduced bone mineral density Low solidness and mass of the bones 0004349 Scrotal hypoplasia Smaller than typical growth of scrotum 0000046 Severe sensorineural hearing [rarediseases.info.nih.gov]

  impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0008625 22 obesity 33 HP:0001513 23 coarse facial features 33 HP:0000280 24 absent speech 33 HP:0001344 25 postnatal growth retardation 33 HP:0008897 26 chorioretinal coloboma 33 HP:0000567 27 [malacards.org]

  Congenital toxoplasmosis may result in significant problems in approximately 20% of infected infants (eg, hydrocephalus, microcephaly, psychomotor retardation, vision and hearing impairment) and in milder developmental problems later in life. [emedicine.medscape.com]

• Low-Set Posteriorly Rotated Ears

  posteriorly rotated ears 0000368 Microtia Small ears Underdeveloped ears [ more ] 0008551 Reduced bone mineral density Low solidness and mass of the bones 0004349 Scrotal hypoplasia Smaller than typical growth of scrotum 0000046 Severe sensorineural [rarediseases.info.nih.gov]

  posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368 15 downturned corners of mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0002714 16 hypoplasia of penis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008736 17 spina [malacards.org]

• Large Ears

  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]

• Widely Spaced Nipples

  nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Percent of people who have these symptoms is not available through HPO Absent speech Absent speech development Lack of language development Lack of speech No speech development No speech [rarediseases.info.nih.gov]

• Coarse Face

  Clinical features included short stature, coarse face, deep set eyes, microphthalmia, large ears, gynoid obesity, imperforate anus, sacral spina bifida, pseudovaginal perineoscrotal hypospadias, persistence of Mullerian structures, and low gonadotrophin [malacards.org]

• Short Neck

  neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short philtrum 0000322 Short thorax Shorter than typical length between neck and abdomen 0010306 Spina bifida occulta 0003298 Synophrys Monobrow [rarediseases.info.nih.gov]

  Human phenotypes related to Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type: 60 33 (show all 32) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470 [malacards.org]

• Short Nose

  nose Decreased length of nose Shortened nose [ more ] 0003196 Short philtrum 0000322 Short thorax Shorter than typical length between neck and abdomen 0010306 Spina bifida occulta 0003298 Synophrys Monobrow Unibrow [ more ] 0000664 Thin vermilion border [rarediseases.info.nih.gov]

  Very frequent (99-80%) HP:0000470 2 genu valgum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002857 3 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249 4 kyphosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002808 5 short [malacards.org]

• Downturned Corners of the Mouth

  Showing of 31 80%-99% of people have these symptoms Deeply set eye Deep set eye Deep-set eyes Sunken eye [ more ] 0000490 Downturned corners of mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714 Genu valgum Knock knees 0002857 Hypogonadism [rarediseases.info.nih.gov]

• Thin Lips

  lips [ more ] 0000233 Wide intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Percent of people who have these symptoms is not available through HPO Absent speech Absent speech development Lack of [rarediseases.info.nih.gov]

• No Speech Development

  development Lack of language development Lack of speech No speech development No speech or language development Nonverbal [ more ] 0001344 Autosomal recessive inheritance 0000007 Bilateral microphthalmos Abnormally small eyeball on both sides 0007633 [rarediseases.info.nih.gov]

  Although speech develops more slowly, expressive language later becomes a strength. However, thinking remains concrete. Therefore, figurative speech, such as metaphor, is difficult to grasp. [mentalhelp.net]

  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]

  development (in some patients) Head And Neck Ears: sensorineural hearing loss, severe Clinical features from OMIM: 600122 [malacards.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and 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]

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. [rarediseases.info.nih.gov]

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]