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1.

22q13.3 deletion syndrome

Phelan-McDermid syndrome (22q13.3 deletion syndrome) is characterized by neonatal hypotonia, global developmental delay, absent to severely delayed speech, and normal to accelerated growth. Most individuals have moderate to profound intellectual disability. Other features include large fleshy hands, dysplastic toenails, and decreased perspiration that results in a tendency to overheat. Behavior characteristics include mouthing or chewing non-food items, decreased perception of pain, and autistic-like affect. [from GeneReviews]

MedGen UID:
339994
Concept ID:
C1853490
Disease or Syndrome
2.

Smith-Magenis syndrome

Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly facial features that progress with age), developmental delay, cognitive impairment, and behavioral abnormalities. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory integration issues are frequently noted. Children and adults typically have inattention, distractibility, hyperactivity, impulsivity, maladaptive behaviors including frequent outbursts/temper tantrums, attention seeking, disobedience, aggression, toileting difficulties, and self-injurious behaviors (SIB) including self-hitting, self-biting, and/or skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. The finger lick and page flipping ("lick and flip") behavior may be less prevalent than initially reported. An underlying developmental asynchrony, specifically between intellectual functioning and emotional maturity, may also contribute to maladaptive behaviors in people with SMS. [from GeneReviews]

MedGen UID:
162881
Concept ID:
C0795864
Disease or Syndrome
3.

Shprintzen syndrome

Individuals with 22q11.2 deletion syndrome (22q11.2DS) have a range of findings including the following: Congenital heart disease (74% of individuals), particularly conotruncal malformations (tetralogy of Fallot, interrupted aortic arch, ventricular septal defect, and truncus arteriosus). Palatal abnormalities (69%), particularly velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate. Characteristic facial features (present in the majority of individuals of northern European heritage). Learning difficulties (70%-90%). An immune deficiency (regardless of the clinical presentation) (77%). Additional findings include the following: Hypocalcemia (50%). Significant feeding and swallowing problems; constipation with or without structural gastrointestinal anomalies (intestinal malrotation, imperforate anus, and Hirschsprung disease). Renal anomalies (31%). Hearing loss (both conductive and sensorineural). Laryngotracheoesophageal anomalies. Growth hormone deficiency. Autoimmune disorders. Seizures (idiopathic or associated with hypocalcemia). CNS anomalies including tethered cord. Skeletal abnormalities (scoliosis with or without vertebral anomalies, clubbed feet, polydactyly, and craniosynostosis). Ophthalmologic abnormalities (strabismus, posterior embryotoxon, tortuous retinal vessels, scleracornea, and anophthalmia). Enamel hypoplasia. Malignancies (rare). Developmental delay (in particular delays in emergence of language), intellectual disability, and learning differences (non-verbal learning disability where the verbal IQ is significantly greater than the performance IQ) are common. Autism or autistic spectrum disorder is found in approximately 20% of children and psychiatric illness (specifically schizophrenia) is present in 25% of adults; however, attention deficit disorder, anxiety, perseveration, and difficulty with social interactions are also common. [from GeneReviews]

MedGen UID:
65085
Concept ID:
C0220704
Disease or Syndrome
4.

Williams syndrome

Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to poor weight gain in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones. [from GeneReviews]

MedGen UID:
59799
Concept ID:
C0175702
Disease or Syndrome
5.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI_NCI-GLOSS]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
6.

Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

MedGen UID:
892935
Concept ID:
C4020875
Pathologic Function
7.

Delay

MedGen UID:
879911
Concept ID:
CN235300
Finding
8.

Dysmorphism

MedGen UID:
832917
Concept ID:
CN228290
Finding
9.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) [from MeSH]

MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
10.

22q11.2 deletion syndrome

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. [from ORDO]

MedGen UID:
799164
Concept ID:
CN205308
Disease or Syndrome
11.

Dysmorphism

MedGen UID:
740569
Concept ID:
C1737329
Congenital Abnormality
12.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
13.

Chromosome 22q deletion

MedGen UID:
435017
Concept ID:
CN072191
Disease or Syndrome
14.

Cognitive delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

MedGen UID:
351243
Concept ID:
C1864897
Finding
15.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [from HPO]

MedGen UID:
334384
Concept ID:
C1843367
Finding
16.

facial dysmorphism

An abnormal morphology (form) of the face or its components. [from HPO]

MedGen UID:
120588
Concept ID:
C0266617
Congenital Abnormality
17.

Delayed speech and language development

A degree of language development that is significantly below the norm for a child of a specified age. [from HPO]

MedGen UID:
105318
Concept ID:
C0454644
Finding
18.

Developmental delay

Failure to meet, or late achievement of developmental milestones. [from NCI]

MedGen UID:
98410
Concept ID:
C0424605
Mental or Behavioral Dysfunction
19.

Abnormal facial shape

An abnormal morphology (form) of the face or its components. [from HPO]

MedGen UID:
98409
Concept ID:
C0424503
Finding
20.

Craniofacial Abnormalities

Craniofacial is a medical term that relates to the bones of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft lip and palate, are among the most common of all birth defects. Others are very rare. Most of them affect how a person's face or head looks. These conditions may also affect other parts of the body. Treatment depends on the type of problem. Plastic and reconstructive surgery may help the person's appearance.  [from MedlinePlus]

MedGen UID:
91281
Concept ID:
C0376634
Congenital Abnormality
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