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

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.