# 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.