Section III: Syndromes

The 5 Minute Pediatric Consult


	SECTION III: Syndromes

4p syndrome—round face, prominent nasal tip, polydactyly, scoliosis.

5p syndrome—macrocephaly, small mandible, long thin fingers, short big toes, anorectal and renal anomalies.

Aagene syndrome—hereditary recurrent intrahepatic cholestasis; with lymphedema; autosomal recessive.

abetalipoproteinemia—recessive transmission; progressive cerebellar ataxia and pigmentary degeneration of retina; starts with malabsorption of fat and progresses to ataxia; absent or reduced lipoproteins, low carotene, vitamin A, and cholesterol; acanthocytosis (spiny projections on red cells).

acanthosis nigricans—hyperpigmented lichenificated plaques in the neck and axilla; may be associated with insulin resistance (Lawrence-Seip syndrome).

acrodermatitis enteropathica—autosomal recessive; zinc deficiency; vesicobullous and eczematous skin lesions in perioral, perineal, cheeks, knees, elbows; photophobia, conjunctivitis, corneal dystrophy, chronic diarrhea, glossitis, nail dystrophy, growth retardation, superinfections, Candida infections.

Adie chronic pupillary syndrome—hyperreflexia involves the parasympathetic innervation of iris, resulting in large pupil with little or no reaction to light; may react to accommodation; patients have hyporeflexia.

agenesis of corpus collosum—most cases are unknown etiology; rarely as X-linked recessive; absence of major tracts that connect the right and left hemispheres; usually associated with hydrocephalus, seizures, developmental delay, abnormal head size, and hypertelorism.

Alagille syndrome—(arteriohepatic dysplasia) decreased amount of intrahepatic bile ducts with progressive destruction of bile ducts; patients have broad forehead, deep-set eyes that are widely spaced and underdeveloped, mandible, cardiac lesions, vertebral arch defects, renal changes in the tubules and interstitium.

Albers-Schönberg disease—most are autosomal dominant, few are autosomal recessive; osteopetrosis tarda or marble bone disease; increase in bony density; manifests in children, adolescents, and young adults; prone to fractures, mild anemia, craniofacial disproportion; radiologic changes include increase in density of cortical bone, longitudinal and transverse dense striations at the ends of long bones, lucent and dense bands in vertebrae-thickened base of skull.

Albright syndrome—see McCune-Albright syndrome.

Alexander disease—megaloencephaly in infants, dementia, spasticity, and ataxia, sometimes seizures in younger children; patients become mute, immobile, dependent; unknown pathogenesis, hyaline eosinophilic inclusions in the footplates of astrocytes in subpial and subependymal regions.

Alport syndrome—progressive hereditary nephritis; several forms of heredity male-to-male autosomal dominant, also X-linked form; neurosensory deafness, progressive renal failure.

Anderson disease—branching enzyme deficiency, amylopectinosis (glycogen storage disease type IV) accumulation of glycogen with unbranched long outer chains in various tissues; hepatomegaly and failure to thrive in first few months, progressing to liver cirrhosis and splenomegaly.

Apert syndrome—acrocephalosyndactyly; autosomal dominant, high and flat frontal bones, underdevelopment of the middle third of the face and hypertelorism and proptosis, narrow high-arched palate, short beaked nose, syndactyly of the toes and digits.

arthrogryposis multiplex congenita—fixed contractures of multiple joints, present at birth.

Bart syndrome—autosomal dominant, congenital aplasia of the skin, recurrent blisters of skin and mucous membranes, and nail defects.

Bartter syndrome—hypertrophy of juxtaglomerular apparatus; hypokalemic alkalosis, hypochloremia, and hyperaldosteronism; normal blood pressure, renin is elevated; may lead to mental retardation and small stature.

Beckwith-Wiedemann syndrome—hypoglycemia and macrosomia; visceromegaly; umbilical anomalies, renal medullary dysplasia.

Behçet syndrome—relapsing iridocyclitis and recurrent oral and genital ulcerations; 50% will have arthritis, cause unknown.

blind loop syndrome—stasis of small intestine secondary usually to incomplete bowel obstruction or problem of intestinal motility.

Bloch-Sulzberger syndrome—incontinentia pigmenti, mental retardation; one-third have seizures, ocular malformations.

Bloom syndrome—autosomal recessive; erythema and telangiectasia in a butterfly distribution, photosensitivity, and dwarfism.

Blount disease—tibia vera; disorder of growth of the medial part of the proximal tibial epiphysis; irregularity of the medial aspect of the tibial metaphysis adjacent to the epiphysis; bowing starts as angulation at the metaphysis.

blue diaper syndrome—defective tryptophan absorption.

Brill-Zinsser disease—repeat episode of typhus; a Rickettsia infection.

bronchiolitis obliterans—obstruction of small bronchi and bronchioles by fibrous tissue; begins with necrotizing pneumonia secondary to viral infections (adenovirus, influenza), measles, tuberculosis, fumes, talcum powder, or zinc.

Byler disease—autosomal recessive; familial cholestasis; progressive biliary cirrhosis; enlarged liver, pruritus, splenomegaly; elevated bile acids and gallstones.

Caroli disease—cystic dilatation of the intrahepatic bile ducts; autosomal recessive; recurrent bouts of cholangitis and biliary abscesses secondary to bile stasis and gallstones.

Cat’s eye syndrome—autosomal dominant; ocular coloboma, downslanting eyes, congenital heart disease, and anal atresia.

Charcot-Marie-Tooth disease—peroneal muscular atrophy; most common cause of chronic peripheral neuropathy; foot drop, high-arch foot; may have stocking glove sensory loss.

Chédiak-Higashi syndrome—autosomal recessive disorder; partial oculocutaneous albinism, increased susceptibility to infection, lack of natural killer cells, large lysosome-like granules in many tissues; splenomegaly, hypersplenism, hepatomegaly, lymphadenopathy, nystagmus photophobia, peripheral neuropathy.

Coats disease—telangiectasia of retinal vessels; with subretinal exudate.

Cobb syndrome—intraspinous vascular anomaly and port wine stains.

Cockayne syndrome—autosomal recessive; dwarfism, mental retardation, birdlike facies, premature senility, photosensitivity.

Cornelia de Lange syndrome—prenatal growth retardation, microcephaly, hirsuitism, anteverted naries, downturned mouth, mental retardation, congenital heart defects.

Cri du chat syndrome—growth retardation, mental deficiency, hypotonia, microcephaly, round moon face, hypertelorism, epicanthal folds, downslanting palpebral fissures.

Crigler-Najjar disease (congenital nonhemolytic unconjugated hyperbilirubinemia)—type 1 recessive; deficiency of UDP glucoronyl transferase causing rapid rise of unconjugated bilirubin in first day of life; no hemolysis; patients have no conjugation activity; type II autosomal dominant; variable penetrance; partial activity of UDP glucoronyl transferase.

Cronkhite-Canada syndrome—diffuse intestinal polyps involving large and small intestines; alopecia, brown skin lesions, onychatrophia; patients have diarrhea and protein-losing enteropathy.

Crouzon syndrome—craniofacial dysostosis; autosomal dominant with range of expressivity; exophthalmos, hypertelorism, hypoplasia of maxilla; oral cavity anomalies; premature closure of coronal suture; bilateral atresia of external auditory meatus.

cyclic neutropenia—syndrome of fever, mouth lesions, cervical adenitis, and gastroenteritis occurring every 3 to 6 weeks; defect involves lack of granulocyte macrophage colony-stimulating factor (GMCSF); neutrophil count may be zero.

De Toni-Fanconi-Debré syndrome—fatal infantile myopathy with renal dysfunction; weak cry, poor muscle tone, poor suck; lactic acidosis; abnormal mitochondria and lipid and glycogen accumulation.

De Sanctis-Cacchione syndrome—xeroderma pigmentosum with mental retardation, dwarfism, and hypogonadism; autosomal recessive; skin unable to repair after exposure to ultraviolet light; erythema, scaling bullae, crusting telangiectasia keratoses, photophobia, corneal opacities, tumors of eyelids.

Diamond-Blackfan syndrome (congenital hypoplastic anemia)—failure of erythropoiesis, anemia, pallor, and weakness, macrocytic anemia, no hepatomegaly, elevated fetal hemoglobin; defect in abduction with retraction of the eye on adduction.

DiGeorge syndrome—thymic hypoplasia with hypocalcemia; patients have thymic hypoplasia, tetany, abnormal facies, congenital heart disease, and increased infections.

Dubin-Johnson syndrome—autosomal recessive, elevated conjugated bilirubin, large amounts of coproporphyrin I in urine deposits of melanin-like pigment in hepatocellular lysomes.

Eagle-Barrett syndrome—prune-belly syndrome; deficiency of abdominal musculature, dilatation and dysplasia of urinary tract, cryptorchidism and dilated posterior urethra; prostate hypoplastic or absent.

ectodermal dysplasia—poorly developed or absent teeth, nails, hair, sweat glands, sebaceous glands; many variations.

Ehlers-Danlos syndrome—a series of disorders of connective tissue, hyperextensible skin, hypermobile joints, and easy bruisability.

Eisenmenger syndrome—ventricular septal defect and pulmonary hypertension.

Fabry disease—X-linked, lipid storage disease; defect of ceramide trihexoside alpha-galactosidase; tingling and burning in hands and feet; small, red maculopapular lesions on the buttocks, inguinal area, fingernails, and lips. Do not sweat; proteinuria progressing to renal failure.

Farber syndrome—autosomal recessive; deficiency of acid ceramidase, hoarseness, painful swollen joints, palpable nodules over affected joints and pressure points.

fetal alcohol syndrome—small body and head size, abnormal palpebral fissures, epicanthal folds, small jaw and maxillary bone, cardiac septal defect, delayed development, and mental deficiency.

fetal hydantoin syndrome—hypoplasia of midface, low nasal bridge, ocular hypertelorism, cupid bow upper lip; slow growth, may have mental retardation, cleft lip, cardiac malformation.

Friedreich ataxia—mostly autosomal recessive, appears in late childhood or adolescence, progressive cerebellar and spinal cord dysfunction; mainly gait and arm dysfunction; high-arched foot, hammer toes, cardiac failure.

fructose intolerance, hereditary—autosomal recessive; deficiency of fructose 1-phosphate aldolase or fructose 1,6-diphosphatase, vomiting, diarrhea, hypoglycemia seizures, and jaundice.

Gardner syndrome—multiple gastrointestinal polyps with malignant transformation, skin cysts; multiple osteoma.

Gaucher disease—abnormal storage of glucosylceramide in the reticuloendothelial system; three types: type 1 (adult or chronic), type 2 (acute neuropathic or infantile), type 3 (subacute neuropathic or juvenile); splenomegaly, hepatomegaly, delayed development, strabismus, swallowing difficulties, laryngeal spasm, opisthostonos, bone pain.

Gianotti-Crosti syndrome—papular acrodermatitits and hepatitis B; usually benign and self-limited.

Gilles de la Tourette syndrome—dominant trait with partial penetrance; multiple tics: blinking, twitching, grimacing; muscles of swallowing and respiration are involved; may have swearing, can have learning disabilities.

Glanzmann disease—autosomal recessive; defective primary platelet aggregation; platelets are normal in size and survival.

Goldenhar syndrome—oculoauriculovertebral dysplasia; mandibular hypoplasia, hypoplastic zygomatic arch, and malformed displaced pinna; hearing loss.

Goltz syndrome—focal dermal hypoplasia; herniations of fat through thinned dermis, producing tan papillomas associated with other skin defects and skeletal anomalies such as syndactyly, polydactyly, and spinal defects; also colobomas, strabismus, nystagmus.

Gradenigo syndrome—acquired abducens palsy and pain in the trigeminal nerve distribution, usually after otitis media; produces diplopia; ocular and facial pain, photophobia, lacrimation.

Hand-Schüller-Christian disease—now called histiocytosis X or reticuloendotheliosis.

Hartnup disease—autosomal recessive defect in transport of monoamino monocarboxylic amino acids by intestinal mucosa and renal tubules; photosensitivity; pellagra-like skin rash; may have cerebellar ataxia.

histiocytosis X—reticuloendotheliosis; formerly was eosinophilic granuloma, Hand-Schüller-Christian, and Letterer-Siwe diseases; may be few solitary bone lesions, or seborrheic dermatitis of scalp, lymphadenopathy, hepatosplenomegaly, tooth loss, exophthalmus, pulmonary infiltrates.

Hunter syndrome—mucopolysaccharidosis II; X-linked recessive; accumulation of heparan sulfate, and dermatan sulfate; enzyme deficiency (a-L-iduronate sulfatase).

Hurler syndrome—mucopolysaccharidosis IH; autosomal recessive; accumulation of heparan sulfate, and dermatan sulfate; enzyme deficiency (a-L-iduronidase).

hyper IgE—recurrent deep-tissue and skin staphylococcal infections; eosinophilia and IgE levels that are ten times normal.

incontinentia pigmenti—see Bloch-Sulzberger syndrome.

Jeune thoracic dystrophy—respiratory distress, short limbs, and polydactyly; may progress to renal insufficiency.

Job syndrome—severe staphylococcal infections, chronic skin disease, and cold abscesses; may have elevated IgE.

Kallmann syndrome—isolated gonadotropin deficiency and anosmia; familial.

Kartagener syndrome—sinusitis; bronchiectasis; immotile cilia.

Kasabach-Merritt syndrome—hemangioma and consumption coagulopathy; platelet trapping and microangiopathic hemolytic anemia.

Kasai procedure—hepatoportoenterostomy; used to create drainage in patients with biliary atresia.

Kleine-Levin syndrome—unusual hunger, somnolence, and motor restlessness.

Klinefelter syndrome—seminiferous tubule dysgenesis; testicular atrophy, eunuchcoid habitus, gynecomastia, XXY karyotype.

Klippel-Feil syndrome—short neck, limited neck motion, and low occipital hairline.

Krabbe leukodystrophy—cerebroside lipidosis; autosomal recessive; lack of myelin in white matter; starts in infancy, progresses to rigidity, hyperreflexia, swallowing difficulties, lack of development.

Larsen syndrome—hyperlaxicity, multiple dislocations, skin hyperlaxicity; usually autosomal dominant.

Laurence-Moon-Biedl syndrome—retinitis pigmentosa, polydactyly, obesity, hypogonadism.

Lennox-Gastaut syndrome—childhood epileptic encephalopathy; severe seizures, mental retardation, and characteristic EEG pattern; generalized bilaterally synchronous sharp-wave and slow-wave complexes; seizures start in infancy, difficult to treat; mental retardation common.

Lesch-Nyhan syndrome—X-linked recessive disorder; defect in purine metabolism; hyperuricemia results from diminished or absent HGPRT activity, choreoathetosis, compulsive self-mutilation, mental retardation, and growth failure.

Letterer-Siwe disease—part of histiocytosis X; acute disseminated histiocytosis; seborrheic-looking skin lesions; bone lesions, gingival lesions, liver and lung infiltrates.

Lowe syndrome—occulocerebral dystrophy; X-linked recessive; congenital cataracts, glaucoma, hypotonia, hyperreflexia, severe mental retardation; rickets, osteopenia, pathologic fractures, aminoaciduria, and organic aciduria.

Marfan disease—connective tissue disorder involving ectopia lentis, dilatation of aorta, long thin extremities, pectus excavatum or carinatum, scoliosis, pneumothorax.

Marfucci syndrome—multiple enchondromata and hemangioma of bone, and overlying skin; short stature, skeletal deformities, scoliosis, and limb disproportion.

McCune-Albright syndrome—polyostotic fibrous dysplasia; more common in females; prominent skin discoloration; coast of Maine (ragged edges); may have precocious puberty, hyperthyroidism, gigantism headaches, epilepsy, and mental deficiency.

MELAS syndrome—mitochondrial disorder causing neurologic problem of seizures, alternating hemiparesis, hemianopsia, or cortical blindness; has lactic acidosis, spongy degeneration of brain, sensorineural hearing loss and short stature.

Menkes syndrome—short hairs, hypopigmentation, hypothermia, growth failure, skeletal defects, arterial aneurysms, seizures, and progressive CNS failure; X-linked recessive.

Möbius syndrome—cranial nerve defects, hypoplastic tongue or digits.

Morquio syndrome—mucopolysaccharidosis; severe skeletal deformities, pectus carinatum, kyphoscoliosis, short neck hypoplasia of odontoid process C1 to C2 dislocation; neurosensory deafness, aortic insufficiency.

multiple cartilaginous exostosis—bony projections near end of tubular bones and ribs, scapula, vertebral bodies, and iliac crest; appears after age 3; exostoses become calcified; exostoses cause skeletal deformities.

nail-patella syndrome—renal proteinuria, may lead to nephrotic syndrome and renal failure; dystrophic and hypoplastic nails; hypoplastic patellae and iliac horns and malformed radial heads; autosomal dominant.

Niemann-Pick disease—storage of sphingomyelin and cholesterol; four types; normal birth followed by delayed development; hepatomegaly; 50% have cherry red spot.

Noonan syndrome—cardiac lesions (ASD or pulmonic stenosis); facial changes (palpebral slant, broad flat nose), webbed neck; short stature, high-arched palate, and malformed ears; normal karyotype.

Osler-Weber-Rendu syndrome—hereditary hemorrhagic telangiectasia; telangiectasias are present in the skin, respiratory tract mucosa, lips, nails, conjunctiva, nasal and oral mucosa.

Parinaud syndrome—weakness of upward gaze, poor convergence, and accommodation, retractive nystagmus with upward gaze and pupillary changes.

Pelizaeus-Merzbacher disease—dancing eye movements, delayed motor development and spasticity, small head, poor head control; may have optic atrophy and seizures.

Peutz-Jeghers syndrome—autosomal dominant; blueish-black macules around mouth, intestinal polyposis in small bowel.

Pickwickian syndrome—obesity, hypoventilation syndrome; may cause respiratory arrest, restless sleep.

Pierre Robin syndrome—severe micrognathia, glossoptosis, cleft palate.

Poland syndrome—unilateral hypoplastic pectoral muscle with ipsilateral upper limb deficiency, syndactyly, and defect of subclavian artery.

Prader-Willi syndrome—hypotonia, hypomentia, hypogonadism, obesity, narrow bifrontal diameter, hypotonia; may have deletion in chromosome 15.

progeria—premature aging, severe growth failure, atherosclerosis, alopecia, dystrophic nails.

prune-belly syndrome—see Eagle-Barrett syndrome.

Reiger syndrome—sporadic autosomal dominant; microcornea with opacity; iris hypoplasia; anterior synechiae; hypodontia, maxillary hypoplasia.

Riley-Day syndrome—familial dysautonomia, affects sensory and autonomic functions; poor feeding, aspiration, no tears, high threshold to pain, markedly decreased reflexes, smooth tongue and impaired taste, erratic blood pressure and temperature.

Rotor disease—autosomal recessive; elevated conjugated bilirubin, elevated coproporphyrin I and coproporphyrin in urine, normal liver biopsies.

Rubinstein-Taybi syndrome—broad thumbs and toes, short stature, mental retardation, beaked nose, hypoplastic mandible, congenital heart defect.

Russell-Silver dwarf syndrome—intrauterine growth retardation; subnormal growth velocity, triangular facies, clinodactyly, simian creases, GU malformations.

Sandhoff GM₂ gangliosidosis type II—deficient hexosaminidase activity leading to cherry red spot in macula, failure to develop motor skills, blindness, weakness, and seizures.

Sanfilippo A syndrome—mucopolysaccharidosis IIIA; autosomal recessive; accumulation of heparan sulfate, dermatan sulfate; enzyme sulfamidase.

Sanfilippo B syndrome—mucopolysaccharidosis IIIA; autosomal recessive; accumulation of heparan sulfate, dermatan sulfate; enzyme a-N-acetylglucosaminidase.

Scheie syndrome—mucopolysaccharidosis IS; autosomal recessive; accumulation of heparan sulfate, dermatan sulfate; enzyme defect a-L-iduronidase.

Scimitar syndrome—hypoplasia of right lung with systemic arterial supply, anomalous right pulmonary vein dextroposition of heart.

Seckel syndrome—intrauterine growth retardation, microcephaly, sharp facial features with underdeveloped chin, mental retardation.

Shwachman syndrome—pancreatic dysfunction, short stature, bone marrow dysfunction; skeletal abnormalities.

silo filler disease—acute pneumonitis caused by inhalation of nitrogen dioxide; chills, fever, cough, dyspnea, cyanosis, high mortality.

Smith-Lemli-Opitz syndrome—short stature, microcephaly, ptosis, anteverted nares, micrognathia, syndactyly, cryptorchidism, mental retardation.

Sotos syndrome—cerebral gigantism, large head and ears, prominent mandible, mentally retarded; poor coordination.

Stickler syndrome—autosomal dominant; high myopia, cataract formation, retinal detachment.

Sturge-Weber syndrome—port-wine stain on face in area of first branch of the trigeminal nerve; seizures and mental retardation.

Swyer-James syndrome—unilateral hyperlucent lung following bronchiolitis obliterans.

Tourette—see Gilles de la Tourette syndrome.

Treacher Collins syndrome—mandibulofacial dysostosis; autosomal dominant with incomplete penetration; hypoplastic mandible, hypoplastic zygomatic arches, antimongoloid slant to eyes; deformities of pinna, high-arched palate with or without cleft palate.

trisomy 9—deep set eyes, bulbous nasal tip, anxious look, cleft lip.

trisomy 13—cleft lip, microophthalmia, postaxial polydactyly.

trisomy 18—small face, high nasal bridge, short palpebral fissures, micrognathia, small mouth, overriding fingers, hypoplastic nails; mental retardation, intrauterine growth retardation.

tuberous sclerosis—epiloia; seizures, mental deficiency, adenoma sebaceum foci of intracranial calcification, hypopigmented macules, ash leaf spots, connective tissue nevi (shagreen spots) adenoma sebaceum, angiofibroma.

Turcot syndrome—adenomatous colonic polyposis associated with malignant brain tumors, especially glioblastomas.

Turner syndrome—gonadal dysplasia, short stature, sexual infantilism, streak gonads stems from XO karyotype; other features are atypical facies, low hairline, webbed neck, congenital lymphedema of extremities, coarctation aorta; increased carrying angle.

Usher syndrome—retinitis pigmentosa, cataracts, sensorineural deafness; autosomal recessive.

vanished testes syndrome—bilateral gonadal failure with normal external male genitalia, normal 46 XY karyotype, absent testes, no male puberty.

Vater syndrome—vertebral defects, anal atresia, tracheoesophageal atresia, radial dysplasia, renal dysplasia, congenital heart defect.

Vogt-Koyanagi-Harada syndrome—vitiligo, uveitis, dysacousia, and aseptic meningitis.

Von Gierke disease—type 1 glycogenosis; glucose-6-phosphate deficiency, enzyme is absent in liver, kidney, and intestinal mucosa; produces hypogylcemia under stress such as fasting; hepatomegaly, seizures.

Von Hippel-Lindau syndrome—autosomal dominant linked to chromosome 3; hemangioblastoma of cerebellum and retina; cystic cerebellar neoplasm with increased intracranial pressure.

Waardenburg syndrome—autosomal dominant; white forelock, heterochromic irides, displacement of inner canthi, broad nasal root, and confluent eyebrows.

Wegener granulomatosis—necrotizing granulomatous vasculitis of arteries and veins; involves airways, lungs, and kidneys, with resultant rhinorrhea, nasal ulceration, hemoptysis, and cough; hematuria from necrotizing vasculitis.

Werner syndrome—short stature, juvenile cataracts, hypogonadism, gray hair in second decade; autosomal recessive.

Williams syndrome—mental retardation, hypoplastic nails, periorbital fullness, supravalvular aortic stenosis, growth delay, stellate iris.

Wilson-Mikity syndrome—pulmonary immaturity; occurs in premature infants; slow onset of respiratory distress, retractions, and apnea; may clear in several weeks.

Wiskott-Aldrich syndrome—thrombocytopenia, severe eczema, and recurrent skin infections.

Wolff-Parkinson-White syndrome—short P–R interval and slow upstroke of the QRS delta wave; usually normal heart but may occur in Ebstein anomaly and cardiomyopathy.

Wolman disease—primary xanthomatosis, adrenal insufficiency, vomiting, failure to thrive, steatorrhea, hepatomegaly, and adrenal calcification; fatal.

Zellweger syndrome—cerebrohepatorenal syndrome; hepatic fibrosis and cirrhosis; seizures, mental retardation, hypotonia, glaucoma, congenital stippled epiphyses, and cysts of renal cortex.

Zollinger-Ellison syndrome—islet cell tumors producing duodenal and jejunal ulcers, high gastrin levels, and excessive acid secretion.