Speciality Department

Paediatric Genetics

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Department of paediatric genetics at AIMS is the first of its kind in Kerala. We provide comprehensive evaluation and treatment for children affected with various genetic disorders. We offer the basic chromosomal analysis and metabolic workups for the delineation of genetic conundrums. Another major service we offer regards the counseling of parents who have children with genetic problems.

We offer prenatal diagnosis to couples who are carriers of chromosomal anomalies, single gene disorders, enzyme deficiencies, metabolic disorders and skeletal dysplasias. We have a close liaison with other departments in AIMS and with centers of excellence in the UK and Glasgow to provide comprehensive care for our genetic patients.

We Offer Diagnostic and Treatment Facilities for

Chromosomal Disorders

Numerical Anomalies

The most common chromosomal disorder encountered is Down syndrome (Trisomy 21). In this condition instead of the normal forty-six chromosomes, the affected people have forty-seven chromosomes and an additional chromosome twenty-one constitutes the excess chromosome. The condition usually occurs in babies born to elderly mothers especially women over thirty-five years old. This is the most common form of Down syndrome, constituting ninety to ninety-five percent (of non disjunction type).

Younger couples can also have babies with Down syndrome. Hence, it is highly imperative to check the karyotype of the baby to classify the type, as around five percent of babies would be having a translocation type of down syndrome where there is swapping of materials between two chromosomes. The parents of these babies should be karyotyped for detection of translocation in either of them, which would be highly beneficial for the future counseling in next pregnancy. Mosaics constitute a small percentage of Down syndrome, where the patient has two sets of chromosomal patterns in their body, one normal and the other with Trisomy 21. This occurs in:

  • Turner syndrome
  • Klinefelter syndrome
  • Trisomy 13
  • Trisomy 18

Structural Anomalies

  • translocations
  • inversions
  • deletions
  • duplications

Microdeletions

  • Velocardiofacial syndrome, Williams syndrome
  • Wolf Hirschhorn syndrome
  • Smith Meganis syndrome
  • 1p 36 deletion syndrome

Syndromic Disorders

The delineation of several syndromes according to their clinical features is very important for counseling the parents regarding future intervention programs and for possible prenatal diagnosis in future pregnancies. Some of the common syndromic disorders are:

  • Tuberous sclerosis
  • Neurofibromatosis Type I
  • Noonan syndrome
  • Fragile X syndrome
  • Cornelia de Lange syndrome
  • Prader willi syndrome
  • Syndromes with craniostenosis – Apert, Crouzon, Carpenter
  • Smith Lemli Opitz syndrome
  • Goldenhar syndrome
  • Ectodermal dysplasia
  • CHARGE association
  • VACTRAL anomaly
  • Marfan syndrome
  • Ellis van Creveld syndrome
  • Kabuki make up syndrome
  • Russel Silver syndrome
  • Syndromes with associated deafness – Usher syndrome, Waardenberg, Pendred, Apert, Stickler syndrome
  • Neurocutaneous syndromes

Skeletal Dysplasias

This constitutes a group where the children have a short stature associated with bony deformities. Getting characterization is very important, as a few types have specific therapies and it is important for prenatal genetic counseling.

  • Achondroplasia
  • Hypochondroplasia
  • Osteogenesis imperfecta
  • Metaphyseal dysplasias
  • Familial rickets
  • Spondyloepiphyseal dysplasia congenital

Storage Disorders

Children with neurodevelopmental delay or regression with visual or hearing impairment and physical bony deformities constitutes this group, including:

  • Mucopolysaccharidosis - Hurlur, Hunter, Morquio, Sanfilippo
  • Glycogen storage disorders
  • Niemann-Pick disease, Gaucher’s disease
  • GM1 gangliosidosis

Neurodegenerative Disorders

  • Metachromatic leukodystrophy
  • Sialidosis
  • Hallervorden Spatz syndrome
  • Ataxia Telangiectasia
  • Frederich’s ataxia
  • Heriditary ataxias
  • Sandhoff disease
  • Tay Sach’s disease

Prenatal Diagnosis

This group encompasses the most important beneficiaries of the services of this department, which are:

  • couples having a previous baby with Down syndrome
  • couples where either of a parent is a translocation carrier
  • couples having a previous baby with neural tube defect
  • couples with children having mental retardation, storage disorders
  • couples having a previous baby affected with spinal muscular atrophy
  • elderly pregnant women, especially over thirty-five years old
  • couples here there is neuromuscular disorders in an elder child, like Duchenne muscular dystrophy
  • couples who are consanguineous and are carriers of enzyme defects - Thalassemia
  • those with sickle cell anemia, pyruvate kinase deficiency
  • couples with babies having inborn errors of metabolism
  • couples with children affected with neurodegnerative disorders
  • couples with a history of recurrent miscarriages and those who have conceived following the treatment for infertility

Adult Genetic Services Include:

  • clinical diagnosis is offered to adult genetic disorders and the confirmation of diagnosis is offered with the help of the mutation study of a DNA sample for future management and counseling
  • evaluation of primary amenorrhoea
  • evaluation of couples with infertility
  • couples with recurrent abortions are tested for any chromosomal carrier state
  • Huntington’s chorea
  • myotonic dystrophy
  • Ehlers Danlos syndrome
  • evaluation of familial cancers – familial adenomatous polyposis, familial breast cancer, familial colon cancers
  • multiple endocrine neoplasias (MEN)

Specialty Clinics

Genetic clinic Monday, Wednesday, Friday
Prenatal clinic  Tuesday
Down syndrome & Genetic review clinic Thursday
Counseling day    Saturday

CONTACT US

Phone: 0484 - 2854050 
Email: pediatricgenetics@aims.amrita.edu