- A
dysmorphic feature is an
abnormal difference in body structure. It can be an
isolated finding in an
otherwise normal individual, or it can be related...
- The
palpebral fissure is the
elliptic space between the
medial and
lateral canthi of the two open eyelids. In
simple terms, it is the
opening between the...
-
Symptoms vary, but
usually result in
dysmorphisms in the skull,
nervous system problems, and
developmental delay.
Dysmorphisms in the heart, kidneys, and musculoskeletal...
- Tetra-amelia
syndrome (tetra- + amelia), also
called autosomal recessive tetraamelia, is an
extremely rare
autosomal recessive congenital disorder characterized...
- is
characterized by
profound intellectual disabilities, cranio-facial
dysmorphisms (including blepharophimosis), and
other congenital ocular-brain-urogenital-skeletal...
- more
severe than that of
tetrasomy X, with
lower IQ and more
severe dysmorphism.
Pentasomy X also has
additional characteristics uncommon in the tetrasomy...
-
Fetal warfarin syndrome is a
disorder of the
embryo which occurs in a
child whose mother took the
medication warfarin (brand name: Coumadin)
during pregnancy...
-
Specialty Medical geneticsÂ
Symptoms Intellectual disability,
facial dysmorphisms,
genital anomalies Usual onset Conception Duration Lifelong Causes Nondisjunction...
- Collins–Pope syndrome, also
known as
Dislocation of the hip-
dysmorphism syndrome, is a rare
autosomal dominant genetic disorder which is characterized...
-
Olivopontocerebellar atrophy Spinocerebellar ataxia 27 at NIH's
Office of Rare
Diseases Spinocerebellar ataxia dysmorphism at NIH's
Office of Rare Diseases...
