Aagenaes Syndrome: A form of idiopathic familial intrahepatic cholestasis in which cholestasis is accompanied by lymphedema of the lower extremities.
Abetalipoproteinemia (Acanthocytosis): Progressive
ataxia, retinitis pigmentosa, malabsorption, hypocholesterolemia, abetalipoproteinemia, thorny red cells (acanthocytes); autosomal recessive.
Acanthocytosis: See abetalipoproteinemia.
Acrodermatitis Enteropathica (Brandt Syndrome):
Chronic diarrhea (frequently steatorrheic), dermatosis usually around body openings, alopecia, paronychia; frequently conjunctivitis and blepharitis; zinc deficiency; familial; autosomal recessive.
Adenosine-deaminase Deficiency: Severe combined
immunodeficiency (SCID), low enzyme levels in red cells; autosomal recessive.
Alagille Syndrome (Arteriohepatic Dysplasia):
Unusual facial features like broad forehead, deeply- set, widely-spaced eyes, long, straight nose, underdeveloped mandible; ocular abnormalities (posterior embryotoxin), cardiovascular abnormalities (pulmonary stenosis, tetralogy of Fallot), vertebral arch defects (peripheral butterfly vertebra), tubulointerstitial nephropathy, growth retardation, defective spermatogenesis; complica- tions include neurologic evidence of vitamin E deficiency, pruritus, xanthomata.
Albright Syndrome (Fibrous Dysplasia of Bone): Skin
pigmentation, short stature, precocious puberty, areas of osseous rarefaction resembling cysts, advanced bone age, fractures.
Alice-in-Wonderland Syndrome: Perceptual distortion of shape, size, color and reciprocal position of objects; seen in EBV infection, epilepsy, hallucinogenic drugs, schizophrenia, migraine, etc.
Alpha1-antitrypsin Deficiency: Persistent jaundice
(obstructive) in a newborn, cirrhosis, adult emphy- sema; autosomal recessive.
Ataxia Telangiectasia: Progressive ataxia, choreo-
athetosis, telangiectasia of conjunctiva, face, elbows and knees; autosomal recessive.
Beckwith Syndrome (Beckwith-Wiedemann Syn- drome): Macroglossia, macrosomia, omphalocele,
hyperplasia of kidneys and pancreas, proneness to Wilms’ tumor; hypoglycemia, prominent facial nevus flameus.
Berger Disease: Gross hematuria (intermittent), benign
focal glomerular lesion.
Blackfan-Diamond Anemia: Congenital pure red cell hypoplastic anemia.
Bloom Syndrome: Dwarfism, congenital telangiectatic
erythema over malar area of face, nose and lips, photosensitivity, small narrow face, high-pitched voice, protruding ears; diminished immunoglobu- lins; high frequency of chromosomal breakage.
Blue Diaper Syndrome: Failure to thrive (FTT), blue
discoloration of diaper right from early infancy, irritability, constipation, infections, recurrent fever of unknown etiology, high blood urea, hypercalcemia, extensive nephrocalcinosis.
Brandt Syndrome: See acrodermatitis enteropathica.
Caffey Disease (Infantile Cortical Hyperostosis): Nonsuppurative, tender, painful swellings over the flat and tubular bones, (subcutaneous tissue and
joints are spared), irritability, fever, anemia,
leukocytosis, high ESR and alkaline phosphatase; X-ray of bones reveals cortical hyperostosis; self- limited; corticosteroids indicated in advanced cases.
Caudal-Regression Syndrome: Anorectal malfor-
mations, urogenital anomalies, varying degrees of lumbosacrococcygeal agenesis; most extreme form is represented by mermaid fetus (sirenomelia); supposed to be an embryonal defect dating back to the primitive streak stage during third week of intrauterine life; recently diabetes mellitus has been incriminated as a possible cause.
Chédiak-Higashi Syndrome: Semialbinism, photo-
phobia, nystagmus, excessive sweating, general- ized lymphadenopathy, hepatosplenomegaly, pale optic fundi, pyogenic infections, progressive neu- rologic manifestations; grey-green granules in the cytoplasm of neutrophils and extremely large red granules in the eosinophils and myelocytic cells of the marrow; familial, autosomal recessive; fatal.
Chotzen Syndrome (Cranio-oculodental Syndrome):
Characteristic facies with asymmetry, low hairline, ptosis parrot-beaked nose, partial craniosynostosis (specially involving coronal or sphenobasilar sutures).
Chronic Granulomatous Disease: Frequent pyogenic
infections; nitroblue tetrazolium test; X-linked recessive.
Cleidocranial Dysostosis: Absent clavicles, delayed
closure of fontanels; autosomal dominant.
Cockayne Syndrome: Dwarfism, ankylosis, kyphosis, pinched facies, thin nose, sunken eyes,
prognathism, mental retardation, partial deafness, ataxia, photosensitivity, optic, atrophy, attenuation of retinal vessels; hereditary.
Congenital Chloridiarrhea: Neonatal diarrhea, low
serum chloride and potassium, metabolic alkalosis; autosomal recessive.
Crigler-Najjar Syndrome: Type 1-severe neonatal
jaundice, autosomal recessive. Type 2-mild neonatal jaundice, autosomal dominant, responds to phenobarbital. Cause: glucoronyl transferase deficiency.
Cystinosis: Failure to thrive, cystine crystal deposits
in eyes, marrow and reticuloendothelial system; autosomal recessive.
Dermatitis Herpetiformis: Skin eruptions (vesicular
and itching), malabsorption consistent with celiac
disease. Skin lesions show slow response to elimination of gluten from diet.
Dermochondrocorneal Dystrophy of Francois: Xan-
thoma-like skin nodules, abnormal ossification of cartilage of hands and feet, reduced visual acuity due to white, irregular corneal opacities.
Diastematomyelia: Progressive paralysis, anesthesia,
neurogenic bowel and bladder due to the traction caused by the bony spur through the lower spinal cord.
DiGeorge Syndrome: Defects of heart and face,
repeated infections, neonatal tetany; absent thymus and parathyroids; normal immunoglobulins.
Donohue Syndrome (Leprechaunism): Hairy old-man’s
appearance, wrinkled skin, hypertelorism, prominent eyes, broad and protruding nose, large and lowset ears; in females nipples, labia minora and clitoris are hyperplastic.
Dubin-Johnson Syndrome: Intermittent obstructive
jaundice, black pigment in liver biopsy; autosomal recessive.
Ebstein Anomaly: Tricuspid valve set in right ventricle,
large square cardiac shadow, abnormal ECG and rhythms.
Ehlers-Danlos Syndrome: Hyperelastic and easily
scarred skin, easy bruising; hypermobility and recurrent dislocation of joints; of 10 types, autosomal dominant is commonest.
Evans Syndrome: Hemolytic anemia, thrombocy-
Fabry Syndrome: Cutaneous papules and macules, hyperkeratotic skin particularly in areas of genitalia
Familial Dysautonomia (Riley-Day Syndrome):
Absence of tears, poor perception of painful stimuli, excessive drooling, sweating, skin blotching, paroxysmal hypertension; autosomal recessive.
Fanconi Anemia: Congenital malformation of bones
of forearm, dwarfism, mental retardation, aplastic anemia developing in toddler; autosomal recessive. Fetal-alcohol Syndrome: Prenatal onset and persis- tence of growth deficiency for length, weight and
head circumference, facial abnormalities (short palpebral fissure, epicanthal fold, maxillary hypoplasia, micrognathia, thin upper lip), cardiac
defects (septal), minor limb and joint abnormalities, growth and mental deficiency. Cause: High level of alcohol ingestion during pregnancy.
Fetal Caffeine Syndrome: Low birth weight, develop- mental delay, multiple congenital malformations. Cause: Daily/consumption of over 8 to 10 cups of caffeine drink during pregnancy, providing over 1,000 mg caffeine/day.
Fragile X Syndrome: Long face, prominent forehead,
large ears, prominent jaw, macroorchidism; beha- vioral problems, even mental retardation; Cause: a rare folate-sensitive fragile site in band Xq 27.3; dominant X-linked disorder; gene stands isolated.
Freeman-Sheldon Syndrome (Whistling-face Synd- rome, Craniocarpotarsal Dysplasia): Stiff, mask-
like facies with flattened facial bones, ptosis, blepharophimosis, narrow, small nose, high-arched palate, microstomia with small tongue and thin protruding lips.
Friedreich Ataxia: Cerebellar ataxia due to spino-
cerebellar degeneration, pes cavus, myocarditis, followed by scoliosis later, at times diabetes insipidus; autosomal recessive.
Fröhlich Syndrome: Obesity, hypogenitalism, growth retardation, diabetes insipidus; Cause: usually
Gilbert Syndrome: Fluctuating unconjugated hyper- bilirubinemia (mild) which is aggravated by administration of nicotinic acid; autosomal
Goldenhar Syndrome (Oculoauriculovertebral Dysp- lasia): Epibulbar dermoids, preauricular skin
appendages, malformations of mandible, sometimes hemivertebrae or fused vertebrae.
Goltz-Gorlin Syndrome (Focal Dermal Hypoplasia):
Atrophy and linear pigmentation of skin with occa- sional papillomas, alopecia, dystrophy, malfor- mation of teeth, squint, colobomas of iris, choroid and retina, asymmetry of nasal cartilage, digital anomalies.
Gulf Syndrome: Hypervitamsnosis A and D resulting
from excessive intake of vitamins A and D in fish oil pearls marketed by Gulf countries.
Gray Baby Syndrome: Following 2 to 4 days’ adminis-
tration of chloramphenicol may occur such manifestations in the newborn as vomiting or regurgitation, refusal to suck and abdominal distension. In another day or so, the baby develops ashengray color and becomes limp and severely dyspneic. He may die within one to two days of onset of manifestations.
Hallermann-Streiff Syndrome (Oculomandibulofacial Dyscephaly): Aged, wrinkled appearance, microphthalmia, bilateral cataract, hypomandi-
bulosis, hypotrichosis, parrot-like facies, microcephaly, dental defects, and motor and mental retardation.
Hallervorden-Spatz Disease: Progressive rigidity and
dementia beginning in late childhood; Cause:
deposits of iron-containing pigment in globus pallidus and substantia nigra.
Hand-Schüller-Christian Disease: Histocytic infilt-
ration causing triad of bone lesions, exophthalmos and diabetes insipidus.
Hartnup Disease: Intermittent ataxia, photoder-
matitis, psychosis, generalized neutral amino- aciduria; autosomal recessive.
Hyper-IgE Syndrome (Job Syndrome): Recurrent
Staph, abscesses, skin pigmentation, chronic eczema, red hair; occurs exclusively in boys; IgE levels remarkably high; a cell-mediated immunity defect.
Jervell-Lange-Nielsen Syndrome (Cardioauditory Syndrome): Congenital perceptive deafness (sym-
metrical), cardiac conduction defects, syncopal attacks, sudden death; autosomal recessive.
Job Syndrome: See hyper IgE syndrome.
Kallmann Syndrome: Anosmia, gonadotrophin lack; X-linked recessive.
Kartagener Syndrome: Dextrocardia (usually situs
inversus totalis), chronic sinusitis, chronic bronchitis/bronchiectasis.
Kasabach-Merritt Syndrome: Giant hemangioma,
platelet trapping and consumption.
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome): Prolonged high pyrexia, skin and mucous membrane lesions. Cervical adenopathy;
arthralgia/arthritis, pyuria, proteinuria, mild hepatitis, aseptic meningitis in some; cardio- vascular involvement infrequent.
Larsen Syndrome: Multiple congenital dislocations,
including anterior dislocation of the tibia or the femur, flat facies, frontal bossing, hypertelorism, depressed nasal bridge, talipes equinovarus.
Laurence-Moon-Biedl Syndrome: Obesity, hypogeni-
talism, short stature, retinitis pigmentosa, poly- dactyly, mental retardation: autosomal recessive.
Lazy leukocyte Syndrome: Gingival stomatitis,
recurrent upper respiratory infection, otitis, skin
infection, intractable persistent pyrexia, leukopenia; a neutrophil defect leading to absence of polymorphonuclear motility from bone marrow.
Leigh Syndrome: Subacute necrotizing encephalo-
pathy with progressive neurologic deterioration; early manifestations: feeding difficulties, feeble or absent cry, floppiness; late manifestations: optic atrophy, seizures; autosomal recessive.
Leiner Disease: Severe seborrheic eczema, chronic
diarrhea, failure to thrive, bacterial infections, abnormal C5 complement function.
Léri-Weill Syndrome (Dyschondroteosis): Short
forearms with Medelung deformity and often short lower legs.
Lesch-Nyhan Syndrome: Psychomotor deterioration
progressing to choreoathetosis and self-mutilation by 2 to 3 years, abdominal pain, uric acid crystaluria, renal failure, elevated plasma uric acid, absence of an enzyme; X-linked recessive.
Letterer-Siwe Disease: Histiocytic infiltration leading
to hepatosplenomegaly, purpuric seborrheic eczema.
Lowe Syndrome: Cataract, buphthalmos, mental retar-
dation, aminoaciduria; X-linked recessive.
Lucey-Driscoll Syndrome: Familial transient unconju- gated hyperbilirubinemia: Cause: glucoronyle transferase inhibitor in serum of baby and mother.
Maroteaux-Lamy Syndrome (Pyknodysostosis):
Dwarfism, delayed closure of fontanels, dysplasia of skull, cortical densities of the bones, short digits with wrinkled skin and nail, parrot-like nose, partial adontia.
McCune-Albright Syndrome: Precocious puberty,
fibrous dysplasia of bones, featheryedged pigmen- tation.
Meckel Syndrome: Post-axial polydactyly, encephalo-
cele, cystic dysplastic kidneys and hepatic fibrosis; autosomal recessive disorder.
Menkes Kinky Hair Disease/Syndrome: Woolly, curly
hair, psychomotor deterioration, seizures, low plasma copper and ceruloplasmin; X-linked reces- sive.
Mikity-Wilson Syndrome (Bubbly-lung Syndrome):
Respiratory distress, expiratory grunting, chest retraction; cyanosis; occurs in premature infants shortly after birth; X-ray chest shows combined segmental collapse and overinflation.
Munchausen Syndrome by proxy: Induced or fabricated symptoms in respect of the child by parents, usually by mother connected with medical profession.
MURC Association: An association of Mullerian duct
aplasia/hypoplasia (MU) manifesting as genital anomalies, renal agenesis/ectopy (R), and fusion of cervicothoracic vertebrae (C); probable teratogenic origin.
Myotonic Dystrophy: Infantile hypotonia, feeding
difficulties, mental retardation, cataracts, myo- carditis, frontal baldness (later): autosomal dominent.
Omenn Syndrome: Profound susceptibility to infection,
T-cell infiltration of skin, gut, liver, and spleen leading to exfoliative erythroderma, lymphadeno- pathy, hepatosplenomegaly, and intractable diarrhea. Remarkable eosinophilia and persistent leukocytosis in association with combined immunodeficiency. It is fatal, autosomal recessive.
Optopalatodigital Syndrome: Small nose,
hypertelorism, broad nasal root, frontal and occipital bossing, cleft palate, growth and mental retardation, irregular fingers and toes, limited elbow extension and wrist supination.
Osteopetrosis (Marble Bone Disease): Thickened
fragile bones, pancytopenia, splenomegaly; autosomal recessive.
Peutz-Jeghers Syndrome: Melanotic macules on lips
and mucous membranes, polyposis of small intestine; autosomal dominant.
Prader-Willi Syndrome: Obesity, mental retardation,
Progeria: Low birthweight, early growth failure, premature senility, remarkable loss of subcutaneous fat, bald head, absence of eyebrows, atrophic nails, osteoarthritis, arteriosclerosis.
Reifenstein Syndrome: Hermaphroditism due to defec-
tive virilization from reduced end-organ responsiveness.
Rett Syndrome: A previously normal child begins
showing at 7 to 8 months of age early communication dysfunction with autistic features, dementia, loss of purposeful use of hands, typical hand movements, ataxia and seizures; by age 10 to
12 bedridden because of development of hypertonia and flexed posture; occurs exclusively
in females; believed to be a primary abnormality in central monoaminergic system.
Rieger Syndrome: Hypodontia, iris anomalies,
synechiae extending from the iris to the cornea.
Right Middle Lobe Syndrome: Subacute or chronic
pneumonitis, bronchial obstruction, atelectasis; bronchiectasis may result. In addition to pulmonary suppuration, it may be related to asthma or congenital anomalies of bronchi.
Riley-Day Syndrome: See familial dysautonomia.
Ritter Disease: Bright erythematous eruption over
face, neck, axilla and groin changing into a wrinkled appearance with ill-defined flaccid bullae filled with clear fluid; areas of epidermis separate when gently stroked (Nikolsky sign); within 2 to 3 days postinflammatory desquamation; conjunc- tivitis, pharyngitis, stomatitis; caused by
Staphylococcus aureus, usually group 1.
Rothmund Syndrome: Poikilodermia, cataracts, small saddle nose, microdontia, hyperkeratosis of palms
and soles, mental retardation.
Rotor Syndrome: Neonatal jaundice which persists; autosomal dominant.
Rubinstein-Taybi Syndrome (Broad Thumb-Hallux Syndrome): Growth and mental retardation, charac-teristic facies with beak-like nose, narrow,
high palate, prominent forehead, lowset and slightly anomalous ears, palpebral fissures, showing anti-mon-goloid slant, abnormally wide thumbs and first toes.
Russet-Silver Syndrome: Short stature, asymmetry of
the body, triangular face, clinodactyly, early sexual development.
Schmidt Syndrome: Idiopathic adrenal insufficiency,
hypothyroidism, insulin-dependent diabetes mellitus, hypoparathyroidism, gonadal failure; and autoimmune endocrinopathy.
Short-rib Polydactyly Syndromes: Hydropic appea-
rance, GIT and CVS anomalies, dysplastic kidneys, genital hypoplasia, narrow thorax; micromelia, polydactyly; uniformly fatal at or shortly after birth; prenatal diagnosis possible by radiography or ultrasound; autosomal recessive inheritance.
Sjögren-Larsson Syndrome: Mental retardation,
spastic paralysis, congenital ichthyosis.
Smith-Lemli-Opitz Syndrome: Anteverted nostrils, ptosis, syndactyly of second and third toes, hypos-
padias and cryptorchidism, growth and mental retardation.
Sotos Syndrome (Cerebral Gigantism): Excessive growth (height and weight are significantly large), mild mental retardation, acromegalic facies.
Spasmus Nutans: Abnormal posture and movements
of head, nystagmus.
Subacute Sclerosing Panencephalitis (SSPE): Pro- gressive dementia, spasticity, seizures (especially
myoclonic), EEG showing “burst-suppression” pattern; measles antibodies in CSF; supposed to be secondary to an old attack of measles.
Tangier Disease: Large lobulated tonsils with red,
orange or yellowish banding, hepatosplenomegaly, lymphadenopathy, peripheral neuropathy, loss of pain and temperature sensation; abnormally low plasma cholesterol and nearly absent alphalipo- proteins.
TAR Syndrome: Thrombocytopenia with absent
radius, autosomal recessive.
Turner Syndrome: At birth: Characteristic edema of
dorsa of hands and feet, loose skin folds at nape of neck, LBW, low length. In childhood: Webbing of neck, low posterior hairline, small mandible, promi- nent ears, epicanthal folds, high-arched palate, broad chest, cubitum valgum, hyperconvex fingernails, short stature. In adolescents: Sexual infantilism, pigmented nevi, CVS malformations, genitourinary malformations, sensorineural hearing deficit, inflammatory bowel disease and recurrent GI bleeding from telangiectasia become pronounced.
Waardenburg Syndrome: Lateral displacement of the
inner canthi, prominence of root of the nose, hyper- plasia of the medial portion of the eyebrows, heterochromic iris, white forelock or early graying, congenital sensorineural deafness; autosomal recessive dominance.
WDHA Syndrome: Watery diarrhea, hypokalemia,
acidosis; associated with a non-B cell tumor (VI Poma) of pancreas.
Weber-Christian Syndrome: Recurrent episodes of
fever nonsuppurative nodules in the subcutaneous tissues.
Williams’ Syndrome: Supravalvular aortic stenosis,
mental retardation, elfin facies (broad forehead, flat nose, long upper lip, rounded cheeks, hyper- telorism); associated with idiopathic hypercalcemia of infancy.
Wilson-Mikity Syndrome: LBW, prematurity, severe
apnea on day 2 to 5, atelectasis, reduced functional residual capacity needing therapy with CPAP or mechanical ventilation.
Wiskott-Aldrich Syndrome: Eczema, thrombocy- topinic hemorrhage, increased vulnerability to infections due to immunodeficiency; X-linked recessive trait.
Wolff-Parkinson-White (WPW) Syndrome: Short P-
R interval, slow uptake of QRS (delta wave). May be associated with Ebstein anomaly, corrected TGV. Mostly present in normal heart.
Wolfram Syndrome: Insulin-dependent diabetes mel-
litus (IDDM), optic atrophy, deafness, neurogenic bladder; autosomal recessive inheritance.
Wolman Disease: Failure to thrive, vomiting, diarrhea,
organomegaly, adrenal calcification, leukocyte acid lipase absent; autosomal recessive.
Wooly Hair Disease: Characteristically curly abnor-
mal hair at birth with (i) other ectodermal structures and hair color are normal (autosomal dominant form), (ii) scalp hair of bleached appearance and body hair short and pale (autosomal recessive form), and (iii) only a portion of scalp hair is fine and light-colored and shows poor growth (wooly hair nevus).
X-linked Severe Combined Immunodeficiency
syndrome (XSCID): The infant has point or deletional mutations in IL-2R, Genetic defect affects B- and NK-lineage cells as also T cells.
Yeast syndrome: Fatigue, depression, anorexia, consti- pation, diarrhea and other GI complaints, lack of concentration. It is believed by some to be related
to Candida infection.
Yellow Nail Syndrome: Pleural effusion, lymphedema, discolored nails; sometimes bronchiectasis. It is
related to pulmonary circulation.
Young Syndrome: Sinusitis, bronchiectasis, azoo- spermia; rarely clubbing.
Zellweger Syndrome (Cerebrohepatorenal syndrome): Hypotonia, flat facies with high forehead, low birth-weight, jaundice developing in first few days or weeks, psychomotor development delayed; death usually occurs by sixth month of age.
Zellweger-like syndrome: Physical findings resemb-
ling Zellweger syndrome plus multiple peroxi- somal enzyme deficiencies. Hepatic peroxisomes have normal function.
Zinsser-Cole-Engman Syndrome (Congenital Dyske-
ratosis): Nail atrophy, poikiloderma-like skin
changes with grayish-brown pigmentation and telangiectasis; hyperhidrosis and hyperkeratosis of palms and soles; acrocyanosis and bullae over hands and feet; stomatitis and glossitis; blepharitis, ectropion and watering of eyes; scanty hair; hypoplastic anemia; squamous-cell carcinoma and hematologic defects may prove fatal; X-linked inheritance, affecting only males.
Zollinger-Ellison Syndrome: Peptic ulceration, hyper-
trophy of gastric mucosa and excessive acid secretion due to non-beta-islet-cell adenoma.
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