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AAA syndrome
1. Achalasia 2. Addisonianism 3. Alacrimia
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ABCD syndrome
1. Albinism, 2. Black lock, 3. Cell migration disorder of the neurocytes of the gut and sensorineural 4. Deafness
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CAMFAK syndrome
1. 2. 3. 4. Cataracts, Microcephaly, Failure to thrive, and Kyphoscoliosis
CHARGE syndrome
1. 2. 3. 4. Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Retardation of growth and/or development, 5. Genital and/or urinary abnormalities, and 6. Ear abnormalities and deafness
CRASH syndrome
1. 2. 3. 4. 5. Corpus callosum hypoplasia, Retardation, Adducted thumbs, Spastic paraplegia, and Hydrocephalus
CREST syndrome
1. 2. 3. 4. 5. Calcinosis Raynaud's syndrome Esophageal dysmotility Sclerodactyly Telangiectasia
EEM syndrome
1. Ectodermal dysplasia, 2. Ectrodactyly and 3. Macular dystrophy syndrome
FACES syndrome
1. 2. 3. 4. 5. Facial features, Anorexia, Cachexia, Eye and Skin anomalies
GAPO syndrome
1. Growth retardation, 2. Alopecia, 3. Pseudoanodontia (failure of tooth eruption), 4. Optic atrophy (progressive)
GMS syndrome
1. Goniodysgenesis, 2. Mental deficiency, and 3. Short stature
HEC syndrome
1. Hydrocephalus, 2. Endocardial fibroelastosis and 3. Cataracts
HELLP syndrome
1. Hemolysis 2. Elevated Liver enzymes 3. Low Platelet count
1
IBIDS syndrome
1. 2. 3. 4. 5. Ichthyosis, Brittle hair, Intellectual impairment, Decreased fertility, and Short stature
LEOPARD syndrome
1. Lentigines dark brown macules 2. Electrocardiographic conduction abnormalities 3. Ocular hypertelorism 4. Pulmonary stenosis 5. Abnormal genitalia 6. Retarded growth 7. Deafness
MASA syndrome
1. 2. 3. 4. Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs
MOMO syndrome
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1. 2. 3. 4.
MORM syndrome
1. 2. 3. 4. Mental retardation, Truncal obesity, Retinal dystrophy, and Micropenis
OSLAM syndrome
1. Osteosarcoma, 2. Limb Anomalies, and 3. Macrocytosis (erythroid) with megaloblastic marrow syndrome
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PAPA syndrome
1. Pyogenic Arthritis, 2. Pyoderma gangrenosum and 3. Acne
POEMS syndrome
1. 2. 3. 4. Polyneuropathy Organomegaly Endocrinopathy or Edema, M-protein (an abnormal antibody) and 5. Skin abnormalities (including hyperpigmentation and hypertrichosis
ROHHAD syndrome
1. 2. 3. 4. Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation
SCARF syndrome
1. 2. 3. 4. 5. 6. Skeletal abnormalities, Cutis laxa, Craniostenosis, Ambiguous genitalia, Retardation, and Facial abnormalities
SHORT syndrome
1. Short stature, 2. Hyperextensibility of joints and/or inguinal hernia, 3. Ocular depression, 4. Rieger anomaly and 5. Teething delay
WAGR syndrome
1. 2. 3. 4. Wilms tumour Aniridia Genitourinary anomalies, and Retardation (mental)
WHIM Syndrome
1. 2. 3. 4. Warts, Hypogammaglobulinemia, Infections, and Myelokathexis