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TOPIC : Syndromes

1. What is Ellis van Creveld syndrome (chondroectodermal dysplasia).

2. Iniencephaly?

3. Jeune Syndrome?


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1. Ellis Van Creveld:

recessive inherited, prevalent in Amish community in Pennsylvania, variable shortening more so in forearm and lower legs (mesomelic), hypoplastic tibia, cardiac anomalies (ASD), post axial polydactyly

2. Iniencephaly:

defect in the occiput resulting in exposure of the brain, combined with dysraphism of the cervical spine, results in fusion of the occiput to the cervical spine, and retroflexion of the head with an exaggerated spinal lordosis, associated with encephalocele, spinal bifida.

3. Jeune syndrome (asphyxiating thoracic dystrophy):

short ribbed limb reduction syndrome, inherited as autosomal recessive, severe rib shortening, thoracic reduction, renal dysplasia, hypoplastic lungs, post axial polydactyly.




4. Zellweger’s syndrome?

5. Jarcot Levin Syndrome?

6. Acardiac monster?

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4. Zellweger’s syndrome:

cerebro-hepato-renal dysplasia; hepato-splenomegaly with cystic dysplasia of kidneys.

5. Jarcot-Levin syndrome:

disorganisation of the spine with multiple fused and hemivertebrae, abnormal rib cage, short neck, kypho-scoliosis, posterior fusion of ribs with anterior flaring resulting in crab-chest deformity, autosomal recessive

6. Acardiac monster:

disorder occurs only in monozygotic twin pregnancies where the head and upper part of the thorax of one twin, including the thoracic contents are absent. Vascular anastamosis between the twinns permits the acardiac fetus to survive and grow.



7. Amniotic Band Syndrome?

8. Robert’s Syndrome?

9. Thrombocytopaenia-absent radius syndrome (TAR)?

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7. Amniotic Band syndrome:

variation in severity from minor digital constriction rings to major structural disruption of the head (encephalocele), face, trunk (ventral wall defects), limbs (deformities, amputations). Lesions are asymmetrical.

8. Robert’s syndrome:

recessive, severe tetraphocomelia and median facial clefting associated with marked growth defeciency, other features include syndactyly, talipes, microcephaly, mental retardation.

9. Thrombocytopenia-absent radius syndrome:

bilateral radial aplasia, thumbs are always present, coexisting heart disease such as Fallot’s, VSD.



10. Fanconi pancytopaenia syndrome?

11. Holt Oram Syndrome?

12. Parenti-Fraccaro syndrome?

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10.Fanconi pancytopenia syndrome:

autosomal recessive, bone marrow failure, severe anaemia, aplasia/ hypoplasia of thumb and /or radius

11. Holt-Oram syndrome:

autosomal dominant, upper limb/ girdle deformity, thumb may be absent, hypoplastic or triphalangeal (finger-like), or associated with syndactyly, VSD/ASD are commoncardiac abnormalities.

12. Parenti-Fraccaro (achondrogenesis type I)

autosomal recessive, extreme micromelia (short limbs), short, poorly mineralised spine, short ribs, and almost absent ossification of the calvarium.




13. Meckel-Gruber Syndrome?

14. Encephalocele?

15. Holoprosencephaly?



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13. Meckel-Gruber syndrome:

autosmal recessive, bilateral non-obstructive multicystic dysplastic kidneys, cranio-spinal defect (usually occipital encephalocele) and post axial polydactyly.

14. Encephalocele:

herniation of some of the cranial contents thro a defect in the bony skull, protrusion of meninges only is termed meningocele, when brain tissue protrudes, it is an encephalocele, associated with hydrocephalus, Dandy-Walker malformation, Meckels’ syndrome.

15. Holoprosencephaly

spectrum of disorders resulting from absent or incomplete cleavage of the forebrain or prosencephalon during early embryonic development, depending on severity, condition is classified as alobar, semilobar, lobar. Alobar - single ventricular cavity, fusion of thalami, absent corpus callosum, falx cerebri, optic tracts and olfactory bulbs. Semilobar - cerebral hemispheres are separated posteriorly, with absent corpus callosum. Lobar - most of the structures are seperated, with varying degree of fusion of lateral ventricles, and absent cavum septum pellucidi.

Associated with cyclopia (fused/ nearly fused orbits), cebocephaly (hypotelorism, single nostril in nose), ethmocephaly (hypotelorism, high midline proboscis), median cleft, and holotelencephaly.

Reported occurrence with trisomy 13, 13/15, 18, ring chromosomes.