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]
Ulnar Mammary Syndrome
We report on a girl presenting with an UMS like phenotype, a dysmorphic facies, and mental retardation.[ncbi.nlm.nih.gov]
In addition, a dysmorphic facies and a short neck were noted ( Figure 1 ). Family history was negative for similar conditions.[doi.org]
facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.[genome.jp]
Facioauriculoradial Dysplasia
[…] dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia) Journal of Medical Genetics 1982; 19: 110-115.[jmg.bmj.com]
Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia) A E Harding *, C M Hall †, M Baraitser † *[jmg.bmj.com]
@article{Harding1982AutosomalDA, title {Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia).},[semanticscholar.org]
Blepharofacioskeletal Syndrome
[…] disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.EpidemiologySRS[malacards.org]
Schilbach-Rott syndrome is an autosomal dominant disorder characterized by hypotelorism, epicanthal folds, cleft palate, dysmorphic facies, and hypospadias in males.[ncbi.nlm.nih.gov]
facies, and hypospadias in males.[malacards.org]
Donohue Syndrome
Leprechaunism is clinically manifested by abnormal growth, dysmorphic facies along with abnormalities of the endocrine organs.[symptoma.com]
Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities[profiles.umassmed.edu]
Donohue syndrome, also known as leprechaunism, is a rare autosomal recessive disorder characterized by extreme insulin resistance, growth delays and dysmorphic facies.[symptoma.com]
Acroosteolysis-Keloid-Like Lesions-Premature Aging Syndrome
Distinct mutations in PDGFRB have been shown to cause infantile myofibromatosis, idiopathic basal ganglia calcification, and an overgrowth disorder with dysmorphic facies[unboundmedicine.com]
Developmental retardation with unusual facies, arthritis,and hearing impairment. Dysmorph Clin Genet 4:103109.CoroneoMT, Chui JJY. 2013.[docslide.com.br]
Fetal Hydantoin Syndrome
facies, cleft palate and/or lip, and cardiac defects.[medical-dictionary.thefreedictionary.com]
The abnormalities include disorders of growth and mental development, dysmorphic facies, and osteoarticular, cardiovascular, and other anomalies.[icd10data.com]
Dysmorphic facies in Fetal Hydantoin Syndrome. 4. Fig. 2. Hypoplastic nails in Fetal Hydantoin SyndromeFig.3. Fetal Hydantoin SyndromeReferences:[1] Jones KL.[de.slideshare.net]
Postaxial Oligodactyly, Tetramelic
Hanhart Syndrome Heart Defects Limb Shortening hypochondroplasia Hypoglossia-Hypodactylia Ichthyosis Tapered Fingers Midline Groove Up INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC[crrd.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]
Kenny-Caffey Syndrome Type 1
facies, characteristic bone changes and mild mental retardation.[ncbi.nlm.nih.gov]
[…] characteristics in 1976;[ 4 ] Lee detailed the facial features in 1983.[ 5 ] We are presenting the case of 7-month-old girl with refractory failure to thrive hypoparathyrodism, dysmorphic[ncbi.nlm.nih.gov]
Atelosteogenesis
Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.[monarchinitiative.org]
Atelosteogenesis III (AOIII, incomplete ossification) is a short Limb skeletal dysplasia, with dysmorphic facies and Diagnostic radiographic findings.[codelay.com]
OLS Orphanet Rare Disease Ontolog ORDO Orphanet:56305 Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic[ebi.ac.uk]