1. Ellis Van Creveld:
inherited, prevalent in Amish community in Pennsylvania, variable shortening more so in
forearm and lower legs (mesomelic), hypoplastic tibia, cardiac anomalies (ASD), post axial
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
4. Zellwegers 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:
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. Roberts syndrome:
recessive, severe tetraphocomelia and median facial clefting associated with marked
growth defeciency, other features include syndactyly, talipes, microcephaly, mental
9. Thrombocytopenia-absent radius syndrome:
bilateral radial aplasia, thumbs are always present, coexisting heart disease such as
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
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?
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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.
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
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.