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Mucolipidosis
[…] features such as puffy eyelids and coarse facies were absent in our patient.[neurologyindia.com]
The characteristic phenotype of children with ML-IV is marked by psychomotor delay, corneal clouding, optic atrophy, retinal dystrophy and squint. [1] , [2] Described dysmorphic[neurologyindia.com]
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Brachyphalangy Polydactyly and Tibial Aplasia/Hypoplasia
FACIES AND PTOSIS INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES Jackson-Weiss Syndrome Jequier Kozlowski Skeletal Dysplasia[rgd.mcw.edu]
There is a known association with dysmorphic facies (small nose, micrognathia, and cleft palate) called the femoral hypoplasia-unusual facies syndrome (134780).[docksci.com]
Faces syndrome Facial asymmetry temporal seizures Facial clefting corpus callosum agenesis Facial cleft Facial dysmorphism macrocephaly myopia Dandy–Walker type Facial dysmorphism[sosu.us]
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Autosomal Recessive Mental Retardation 31
facies and skeletal abnormalities.[cags.org.ae]
Facial dysmorphic features include a flat and broad occiput, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low set small ears, everted lower[cags.org.ae]
[…] chromosomal abnormalities Other congenital malformations Mode of Inheritance Autosomal recessive Gene Map Locus MRT35 is a syndrome characterized by severe cognitive impairment, dysmorphic[cags.org.ae]
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Kleiner Holmes Syndrome
We read with interest the article on aplasia cutis congenita by Bhatt et al. and would like to share our experience with an unusual case associated with dysmorphic facies,[annsaudimed.net]
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Muscle-Eye-Brain Disease Type A2
Floppy infant with pred proximal weakness, hyporeflexia, dysmorphic facies Nemaline Ptosis, ophthalmoplegia, respiratory involvement Cramps, ptosis, cardiomyopathy Congenital[slideshare.net]
facies. Other clinical features can include facial, bulbar, and respiratory weakness; short stature; low body weight Multiple joint contractures; scoliosis; long, thin[slideshare.net]
Brooke Autosomal recessive Genetics: mutation in TPM3(75%), Selenoprotein N(1O%) and ACAT1(10%) Child presents as presents as hypotonia, delayed motor milestones and dysmorphic[slideshare.net]
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X-Linked Syndromic Mental Retardation Type Chudley-Schwartz
Clinical features include severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women.[uniprot.org]
Alpha-thalassemia X-linked mental retardation (ATRX) syndrome, one form of X-linked mental retardation, is characterized by severe mental retardation, typical dysmorphic facies[link.springer.com]
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Autosomal Dominant Centronuclear Myopathy
Dysmorphic facies is very common due to facial muscle involvement, and when this does occur, the onset is thought to be in utero .[neurologyindia.com]
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Disseminated Aspergillosis
Physical findings included dysmorphic facies, short stature, and microcephaly; thus radiosensitivity syndromes were considered.[aspergillus.org.uk]
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Glutaric Aciduria
facies).[treatable-id.org]
[…] in neonates, including acidotic coma without ketosis, hypoglycemia, hyperammonemia, hypotonia, myocardiopathy, and sometimes congenital malformations (polycystic kidneys, dysmorphic[treatable-id.org]
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Pinsky - Di George - Harley Syndrome
FACIES AND BEHAVIORAL ABNORMALITIES INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES[rgd.mcw.edu]
FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation Congenital[rgd.mcw.edu]
Kumar Syndrome Gillespie Syndrome Gingival Fibromatosis with Hypertrichosis and Mental Retardation GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC[rgd.mcw.edu]