Handbook of 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 Summarize Major Points Elicit Final Questions Arrange for Follow up Resources The family Village www.familyvillage.wisc.edu References London Dysmorphology Database Smith's recognizable patterns of human malformation (1997) 5th Edition. Early Intervention Services: "A Guide to Your Child's Development" (1999) Notes The information in this outline was last updated in 2002.