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Genetic counseling: Dysmorphic Features - Developmental Delay

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Dysmorphic Features - Developmental Delay


  • 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 UpdateEdit

  • 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 DiagnosisEdit

  • 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 PointsEdit

Elicit Final QuestionsEdit

Arrange for Follow upEdit


  • The family Village


  • London Dysmorphology Database
  • Smith's recognizable patterns of human malformation (1997) 5th Edition.
  • Early Intervention Services: "A Guide to Your Child's Development" (1999)


The information in this outline was last updated in 2002.

This material has been imported fom the wikibook "Genetic counseling"[] under the GNU Free Documentation License.

Heckert GNU white Permission is granted to copy, distribute and/or modify this document under the terms of the GNU Free Documentation License, Version 1.2 or any later version published by the Free Software Foundation; with no Invariant Sections, no Front-Cover Texts, and no Back-Cover Texts. A copy of the license is included in the section entitled "GNU Free Documentation License."

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