Genetic counseling: Dysmorphic Features - Developmental Delay

Dysmorphic Features - Developmental Delay

Contracting

 * Introduce myself and counselor
 * Explain role of counselor is supervisory
 * Discuss the reason for referral
 * Do you know why you are here today?
 * Elicit prior knowledge
 * Assess parental concerns
 * Any further plans for children?
 * I understand you had a previous child that was stillborn?
 * Set goals for the session/overview what will happen
 * Physical exam by Dr.
 * Address parental concerns
 * Discuss any further testing
 * Arrange for follow up

Intake and Family History Update

 * Pedigree
 * Interim History
 * Illnesses
 * Hospitalizations
 * Surgeries
 * Current medications
 * Review of systems
 * Diet/feeding
 * What he eats, how much, how often
 * Skin
 * Rashes, birthmarks, dry skin
 * CV
 * Heart murmur, special heart tests (EKG)
 * Endo
 * Hormone problems, diabetes, thyroid disease, weight gain or loss
 * GU
 * Kidney anomalies, renal ultrasound
 * MS
 * Muscle weakness, scoliosis, bone fractures
 * ENT
 * Sinusitis, ear infection, hearing loss
 * Psych
 * Temperament, sleeping patterns
 * GI
 * Diarrhea, constipation
 * Allergy to food, medicine, etc.
 * Eyes
 * Visual problems, cataracts
 * Neuro
 * Seizures, brain abnormality
 * Resp
 * Colds, infection, wheezing, pneumonia
 * Heme
 * Bleeding disorders
 * Recent tests and procedures
 * Developmental Assessment
 * Currently 1 year, 2 weeks old
 * Skills for a 1 year old
 * Pulls self to standing, may step with support
 * Picks things up with thumb and one finger
 * Stacks two blocks, gives toy on request
 * Gives affection
 * Follows simple directions accompanied by gestures
 * May say 2 or 3 words
 * Skills for a 9 month old
 * Sits alone, changes position without falling
 * Plays with 2 objects at the same time
 * Says mama & baba
 * Skills for 6 month old
 * Sits with minimal support, rolls from back to stomach
 * Transfers object from hand to hand and hand to mouth
 * Babbles, more than 2 sounds
 * Skills for 15 month old
 * May walk without support
 * Stacks 2 blocks
 * Vocalized up and down like conversation; may say 4 or 5 words
 * Some self-feeding
 * Any early intervention programs?
 * Psychosocial assessment
 * Physical exam
 * Macro/microcephaly?
 * Height and weight?

Differential Diagnosis

 * Input criteria using London Dysmorphology Database:
 * Hypertelorism; posteriorly rotated ears; epicanthic folds; developmental delay
 * Output:
 * Braegger: ischiadic hypoplasia; renal dysfunction; immunodeficiency
 * Autosomal recessive
 * Conductive hearing loss, intrauterine growth retardation, microcephaly, syndactyly
 * Cardio-Facio-Cutaneous (CFC) syndrome
 * Common features with Noonan syndrome
 * Pulmonary stenosis is common
 * Enlarged liver and spleen, mild to moderate mental retardation in 80%, macrocephaly, sparse, curly and/or slow-growing hair, lack of eyebrows and eyelashes, abnormal skin lesions varying from severe atopic dermatitis to hyperkeratosis/ichthyosis-like lesions
 * Hypotonia, strabismus, brain anomalies including hydrocephalus, cortical atrophy, hypoplasia of frontal lobes and/or brain stem atrophy
 * Farag: hypertelorism; hypospadias; tetralogy of Fallot
 * Autosomal recessive
 * Mental retardation, also other cardiac defects including PFO, PDA, and absent pulmonary valve
 * Fetal Alcohol Syndrome
 * Low birth-weight
 * Hypotonia, microcephaly, FTT, smooth philtrum with a thin upper lip
 * Cardiac lesions in 1/3 of cases: VSD is most common
 * Hurst: congenital heart disease; choanal stenosis; short stature
 * Autosomal recessive
 * ASD and VSD; microcephaly, small nose, long philtrum, thin upper lip
 * Morillo-Cucci: short stature, mental retardation; unusual face
 * Hypertelorism, ptosis, myopia, strabismus, antimongoloid palpebral fissures
 * Hyperextensible joints; bilateral 5th finger clinodactyly
 * Multiple circumferential skin folds (Michelin baby)
 * Autosomal dominant; heterogeneous condition.
 * Marked annular skin creases on the limbs with underlying nevus lipomatosus
 * Hemihypertorphy, CP can be seen, micrognathia, pectus excavatum, scoliosis, hypoplastic scrotum, and retractile testes.
 * Multiple pterygium syndrome
 * Autosomal dominant
 * Ptosis, antimongoloid eye slant, scoliosis, camptodactyly, vertebral anomalies
 * Small stature, cryptorchidism, normal intelligence
 * Noonan syndrome (Turner-like syndrome)
 * 1/1000 and 1/2300 live births
 * Short stature, short neck with webbing, cardiac anomalies, characteristic chest deformity (pectus excavatum), widespaced nipples, characteristic facies, 35% mental retardation
 * Cryptorchidism, pulmonic stenosis, bleeding disorders
 * Polyhydramnios in 33% of cases and feeding difficulties in 75%
 * Noonan-like/multiple giant cell lesion syndrome
 * Cherubism and polyarticular pigmented villonodular synovitis
 * Opitz-BBB syndrome
 * X-linked and AD (indistinguishable clinically)
 * Hypertelorism, hypospadias, CL/CP, imperforate anus (although rare), hypotonia
 * Congenital heart defect, cryptorchidism, bifid scrotum, mental retardation
 * Hernias, micrognathia, broad flat nasal bridge
 * Pascual-Castroviejo: cerebro-facio-thoracic dysplasia
 * Mental retardation, narrow forehead, bushy eyebrows, triangular-shaped mouth with downturned corners, short neck with low posterior hairline, brachycephaly, maxillary hypoplasia, and multiple skeletal anomalies.
 * Pashayan: MR; truncal obesity, webbed neck, blepharophimosis
 * Simple philtrum, thin upper lip, flat, broad nasal bridge, short stubby nasal tip, hypertelorism, developmental delay
 * Glaucoma requiring enucleation.
 * Pterygium colli-mental retardation-digital anomalies
 * Pterygium colli, ptosis, upslanting palpebral fissures, hypertelorism, broad nasal base and bridge, epicanthus inversus, syndactyly of toes
 * Ritscher-Schinzel: Dandy-Walker malformation of the brain; atrioventricular septal defect
 * Hypertelorism, downslanting palpebral fissures, low-set ears, postnatal growth retardation, cardiac defects, DD
 * Rubinstein-Taybi syndrome
 * Microcephaly, antimongoloid eye slant, hypertelorism, long eyelashes, milt ptosis, prominent and/or beaked nose with or without nasal septum extending below alae nasi (100%), thumbs are broad, occasionally bifid, cardiac defects in 25%, broad great toes in 100%, ear infections are common
 * Sleep problems possibly due to sleep apnea, feeding difficulties are common

Resources

 * The family Village
 * www.familyvillage.wisc.edu