Angelman Syndrome

Category: generalpediatrics-Genetics 2

Findings: speech and developmental delay, jerky puppet like movements, ataxia, seizures, frequent laughing, widely spaced teeth, hypotonia, large chin and mandible

Notes: Due to absence or dysfunction of gene on maternal copy of chromosome 15

Question: What fits these findings?

Beckwith-Wiedemann Syndrome

Category: generalpediatrics-Genetics 2

Findings: hemihypertrophy, omphalocele, neonatal hypoglycemia, macroglossia, increased risk of Wilms tumor-hepatoblastoma-neuroblastoma

Question: What fits these findings?

CHARGE Syndrome

Category: generalpediatrics-Genetics 2

Findings: coloboma, heart defects, atresia choanae, retarded growth, genitourinary anomalies, ear anomalies

Question: What fits these findings?

Cockayne Syndrome

Category: generalpediatrics-Genetics 2

Findings: premature aging, growth failure, hearing loss, vision anomalies, photosensitive skin

Cornelia De Lange Syndrome

Category: generalpediatrics-Genetics 2

Findings: short stature, hirsutism, long eyelashes, small hands and feet, cardiac defects, IUGR

Cri Du Chat Syndrome

Category: generalpediatrics-Genetics 2

Findings: high pitched cry, microcephaly, hypertelorism, high palate, VSD, cleft lip and palate, hypotonia, intellectual disability

Notes: Due to partial deletion of short arm of chromosome 5.

Crouzon Syndrome

Category: generalpediatrics-Genetics 2

Findings: craniosynostosis, cleft lip or palate, prominent forehead, no syndactyly, beak-like nose, wide-set bulging eyes

Notes: Autosomal dominant

Question: What fits these findings?

DiGeorge Syndrome

Category: generalpediatrics-Genetics 2

Findings: Tetralogy of Fallot, thymic aplasia, cleft palate, hypocalcemia, short stature, behavioral abnormalities

Notes: CATCH-22 cardiac defects, abnormal facies, thymic hypoplasia, cleft problems, hypocalcemia, chromosome 22. Diagnose with fluorescent in situ hybridization or chromosomal microarray as this mutation is too small to be seen by karyotyping.

Question: What fits these findings?

Ehlers-Danlos Syndrome

Category: generalpediatrics-Genetics 2

Findings: joint hypermobility, mitral valve prolapse, skin laxity, aortic dissection, easy bruisability, poor wound healing

Question: What fits these findings?

Homocystinuria

Category: generalpediatrics-Genetics 2

Findings: DVT, downwards displacement of lens, cognitive deficits, myopia, osteoporosis

Notes: Caused by inability to convert homocysteine to cysteine. You have find high levels of homocysteine in the urine. Treat with diet high in cysteine, pyridoxine supplementatiom, and diet low in methionine.

Question: What fits these findings?

Kleinfelter Syndrome

Category: generalpediatrics-Genetics 2

Findings: mild intellectual disability, motor or speech delay, long arms and legs, gynecomastia, hypogonadism

Klippel-Trenaunay Syndrome

Category: generalpediatrics-Genetics 2

Findings: hemi-hypertrophy, bone and soft tissue overgrowth, AV fistula, port wine stains, varicose veins, DVTs, limb length asymmetry

Question: What fits these findings?

Laurence-Moon-Bardet-Biedl syndrome (LMBBS)

Category: generalpediatrics-Genetics 2

Findings: intellectual disability, hypogonadism, retinitis pigmentosa, progressively worsening CNS abnormalities such as spastic paraplegia, obesity, postaxial polydactyly

Notes: Similar to Prader Willi but has progressive neurological changes and is related with consanguinity.

Question: What fits these findings?

Marfan Syndrome

Category: generalpediatrics-Genetics 2

Findings: mitral valve prolapse, aortic dissection or regurgitation, mitral valve regurgitation, high arched palate, joint hypermobility, pectus deformity, normal intelligence, superior subluxation of lens, esophageal perforation

Notes: Caused by mutation in FBN1, which is needed in formation of connective tissue.

Question: What fits these findings?

Pierre Robin Syndrome

Category: generalpediatrics-Genetics 2

Findings: cleft palate, glossoptosis, micrognathia, syndactyly, seizures, cor pulmonale, cardiomegaly

Notes: Obtain an echocardiogram to look for cor pulmonale if suspected.

Question: What fits these findings?

Potter Syndrome

Category: generalpediatrics-Genetics 2

Findings: pulmonary hypoplasia, club feet, baggy skin, oligohydramnios

Prader-Willi Syndrome

Category: generalpediatrics-Genetics 2

Findings: hypotonia, obesity, almond shaped eyes, small penis

Notes: Due to absence of dysfunction of paternal copy of gene on chromosome 15

Question: What fits these findings?

Proteus Syndrome

Category: generalpediatrics-Genetics 2

Findings: overgrowth at all 4 limbs but may be asymmetric, intellectual disability, mutation in AKT1, rough areas of skin, scoliosis

Notes: Also known as Elephant Man disease.

Prune Belly Syndrome

Category: generalpediatrics-Genetics 2

Findings: weak or absent abdominal musculature, vesicoureteral reflux, hydronephrosis, renal dysplasia, undescended testes

Rett Syndrome

Category: generalpediatrics-Genetics 2

Findings: regression of milestones, growth deceleration, breath-holding spells, seizures

Notes: Seen in girls as boys don't survive infancy as disorder is X-linked.

Russell-Silver Syndrome

Category: generalpediatrics-Genetics 2

Findings: small chin with triangular face, hypospadias, growth retardation, short stature, clinodactyly, hemihypertrophy

Question: What fits these findings?

Treacher Collins Syndrome

Category: generalpediatrics-Genetics 2

Findings: conductive hearing loss, small jaw or chin, downward slanting ears, oddly shaped ears, flattened cheeks, cleft palate

Notes: Sporadic or autosomal dominant gene mutation that affects development of bones and tissues of the face

Question: What fits these findings?

Turner Syndrome

Category: generalpediatrics-Genetics 2

Findings: bicuspid aortic valve, aortic coarctation, webbed neck, breast buds, short stature, hypertrophic hypogonadism, horseshoe kidney

Notes: Diagnose by karotyping.

Question: What fits these findings?

Waardenburg Syndrome

Category: generalpediatrics-Genetics 2

Findings: white forelock, premature graying, partial albinism, cochlear deafness, iris heterochromia

Notes: Autosomal dominant

Question: What fits these findings?

Wolf-Hirschhorn Syndrome

Category: generalpediatrics-Genetics 2

Findings: hypertelorism, Greek helmet facies, congenital heart defects, preauricular tags, microcephaly, hypotonia, developmental delays

Notes: Caused by gene deletion on chromosome 4