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Disorder of Sex Development - Intellectual Disability Syndrome

Pseudohermaphroditism - Intellectual Disability Syndrome


Presentation

  • 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]
  • 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]
  • 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]
  • If only one or the other is present, the child is not considered intellectually disabled. After a diagnosis of intellectual disability is made, a team of professionals will assess the child’s particular strengths and weaknesses.[webmd.com]
  • Infants Signs and symptoms that may be present from birth include: Poor muscle tone. A primary sign during infancy is poor muscle tone (hypotonia).[mayoclinic.org]
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]
  • Some affected individuals experience growth delays ultimately resulting in short stature.[rarediseases.org]
  • It is characterized by short stature, epicanthal ( eyelid ) folds, abnormal fingerprints, and palm prints, heart defects, poor muscle tone (delay of neurological development) and mental retardation (delay of intellectual development). [3] Less commonly[en.wikipedia.org]
Physician
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
  • This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.[diseaseinfosearch.org]
  • Epileptic seizures often begin as infantile spasms, which should alert the physician to look for other symptoms of this disorder.[emedicine.medscape.com]
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]
Malnutrition
  • Poverty and cultural factors – children who live in poverty have a much higher risk of exposure to environmental toxins, diseases and experiencing malnutrition.[healthyplace.com]
  • Things that can interfere with fetal brain development include alcohol or drug use, malnutrition, certain infections, or preeclampsia. Problems during childbirth.[webmd.com]
  • Poverty predisposes the child to many developmental risks, such as teenage pregnancies, malnutrition, abuse, poor medical care, and deprivation. Severe maternal mental illness is another risk factor.[emedicine.medscape.com]
Epilepsy
  • *Expanded coverage of epigenetics, eHealth applications, cultural and ethnic diversity, spina bifida, and epilepsy.[books.google.com]
  • ID, epilepsy, and calcifications in the brain are seen, as are tumors. Epileptic seizures often begin as infantile spasms, which should alert the physician to look for other symptoms of this disorder.[emedicine.medscape.com]
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]
Osteoporosis
  • Osteoporosis. Osteoporosis causes bones to become weak and brittle, so they may break easily.[mayoclinic.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]
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]
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]
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]
Shortened Nose
  • 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 Decreased volume of lip Thin lips [[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]
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]
Tremor
  • Seizures and tremors are common, as are eczema and psychotic manifestations. The clinical symptoms can be prevented by use of a low-phenylalanine diet soon after birth. In most developed countries, all newborns are screened for PKU.[emedicine.medscape.com]

Treatment

  • 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]
  • Overview A diagnosis of intellectual disability (ID) carries with it certain unique treatment needs that must be understood and addressed.[emedicine.medscape.com]

Prognosis

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

Etiology

  • 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]

Epidemiology

  • 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]
Sex distribution
Age distribution

Prevention

  • 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]
  • Increasingly, a lifelong low-phenylalanine diet is recommended to prevent later deterioration in cognitive functions.[emedicine.medscape.com]

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