Term
|
Definition
Flat facial profile
Oblique palpébral fissures
Epicanthic folds
Sever mental retardation
Congenital heart defects (endocardial cushions)
Atresia of small bowel and esophagus |
|
|
Term
| Trisomy 21 (Increased susceptibility) |
|
Definition
Acute myeloid Leukemia
Acute Lymphoid Leukemia
Alzheimers
Serious infections and THYROID AUTOIMMUNITY |
|
|
Term
|
Definition
Short neck
Mental retardation
Renal malformations
Low set ears
"Rocker bottom feet" |
|
|
Term
|
Definition
Cleft lip
Polydactyly
"Rocker bottom feet"
Micro-ophthalmia
Umbilical hernia |
|
|
Term
|
Definition
Thymic and Parathyroid hypoplasia
Thyroid autoimmunity
Hypocalcemia
Cardiac outflow abnormalities |
|
|
Term
| Velocardiofacial Syndrome |
|
Definition
Cleft Palate
Learning disabilities
Immunodeficiency
PROMINENT NOSE AND RETROGNATHIA |
|
|
Term
|
Definition
Post pubertal Hypogonadism
Long legs
Small penis
Lack secondary male characteristics
MENTAL RETARDATION IS UNCOMMON |
|
|
Term
| Klinefelter Syndrome (Susceptible) |
|
Definition
Infertility (common)
Mitral valve prolapse
Increased Type 2 diabetes |
|
|
Term
| Turner Syndrome (Infancy) |
|
Definition
Edema of the neck, hand, and foot
-Neck is due to cystic hygroma |
|
|
Term
| Turner Syndrome (Post infancy) |
|
Definition
Webbed neck with loose skin
Preductal coarctation of the aorta
Failure to develop normal secondary sex characteristics
Amenorrhea |
|
|
Term
| Turner Syndrome (Complications) |
|
Definition
Insulin resistance (Type 2 diabetes)
Autoantibodies to the thyroid (50% lead to hypothyroidism)
Obesity |
|
|
Term
|
Definition
Ovotestes (both testicular and ovarian tissues present)
Extremely rare
Possibly due to Y-to-autosome translocation |
|
|
Term
| Female pseudohermaphroditism |
|
Definition
Genetic XX
ONLY EXTERNAL GENITALIA AFFECTED
CAH induced |
|
|
Term
| Male pseudohermaphroditism |
|
Definition
Possess a Y chromosome
Gonads are exclusively testes
Genitalia are ambiguous
Defects in testosterone receptor |
|
|
Term
|
Definition
Mentally retarded
Long face with large mandible
Large everted ears
MACRO-ORCHIDISM |
|
|
Term
| Leber hereditary optic neuropathy |
|
Definition
Neurodegenerative disorder
Progressive bilateral central vision loss
15-35 y/o
leads to blindness |
|
|
Term
|
Definition
Paternal imprinting
Mental retardation
Short stature
Hypotonia and obesity
Small hands, feet, and testicles
Hyperphagia |
|
|
Term
| Angelman Syndrome (UBE3A) |
|
Definition
Maternal imprinting
Mentally retarded
Ataxic gait, Seizures, and inappropriate laughter
"HAPPY PUPPETS" |
|
|
