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Guideline Updated:  24 February 2004                                                Specialty: Developmental Pediatrics

Dysmorphic Child Referral Guideline

Diagnosis/Definition

• Major and/or minor congenital malformations. A congenital malformation defined as major if it is of medical and/or cosmetic significance (e.g., cleft lip/cleft palate, congenital heart defect, hydrocephalus, hemihypertrophy, etc.). A minor congenital anomaly is one with little or no medical or cosmetic significance (e.g., fifth finger clinodactyly, single transverse palmar crease, and partial 2-3 syndactyly of the toes) but a minor anomaly may be a recognizable component of a specific malformation syndrome.

Initial Diagnosis and Management

• Based upon the pregnancy history, family history, medical/surgical history, and physical examination, the diagnosis of a certain specific multiple malformation syndrome may become obvious. In many cases, however, it is difficult to definitively establish a recognizable syndrome for the child's physical and developmental findings.
• Initial management will depend upon the presenting malformations.
• Particular attention should be given by the primary care provider to growth and development and establishing that the child's hearing and vision are not impaired. This may require formal visual assessment through Ophthalmology or Optometry clinics or hearing assessment through Audiology Clinic if the patient is unable to cooperate with standard vision and auditory assessment.
• Assess psychosocial concerns.

Ongoing Management and Objectives

• This centers on the individual child's symptoms, medical problems, and birth defects.
• Many recognizable syndromes have specific related medical problems (e.g., proteinuria and hematuria in Alport syndrome, the need for SBE prophylaxis for mitral valve prolapse in Marfan syndrome, recurrent otitis media and chronic serous otitis media associated with achondroplasia, etc.).

Indications for Specialty Care Referral

• PEDIATRIC DYSMORPHOLOGY/GENETICS SPECIALTY REFERRAL (In Developmental Pediatrics Clinic)

• Diagnostic evaluation of an unknown pattern of dysmorphic features with multiple malformations for syndrome diagnosis and relevant genetic counseling.
• Confirmation of diagnosis of a recognized multiple malformation syndrome in a child with multiple congenital anomalies.
• When genetic diagnostic studies are necessary in the comprehensive diagnostic evaluation of the patient (e.g., chromosomal analysis, indicated imaging studies, and/or DNA testing if available).

• CRANIOFACIAL/CLEFT PALATE CLINIC REFERRAL

• Children with cleft palate or other craniofacial anomalies and syndromes should be referred to the multidisciplinary Craniofacial/Cleft Palate Clinic through consultation with Plastic Surgery.

• ANTENATAL DIAGNOSIS CLINIC REFERRAL (Department of Obstetrics, Reproductive Genetics)

• A pregnant woman, or couple considering pregnancy, with congenital anomalies or a family history of congenital malformations, mental retardation, and/or genetic disorders should be referred for Reproductive Genetics (preconceptual or prenatal) consultation with Antenatal Diagnosis Clinic in the Department of Obstetrics.

• All referrals for Dysmorphic Features should be received by Pediatric Dysmorphology prior to release to outside agencies.

Criteria for Return to Primary Care

• Completed specialty diagnostic evaluation and appropriate genetic counseling. Periodic follow-up appointments in Genetics/Dysmorphology Clinic on an annual or semi-annual basis may be deemed appropriate in addition to medical management at the primary care level.