Abnormal facial shape, and Dandy-Walker malformation

Diseases related with Abnormal facial shape and Dandy-Walker malformation

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Dandy-Walker malformation that can help you solving undiagnosed cases.

Top matches:

HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 3, formerly

Related symptoms:

  • Abnormal facial shape
  • Ventriculomegaly
  • Hydrocephalus
  • Cerebellar hypoplasia
  • Polyhydramnios


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3

Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 2; KLEFS2

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 4; CSS4 Is also known as mrd16|mental retardation, autosomal dominant 16

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 4; CSS4

Other less relevant matches:

Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 5; CSS5

Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 3; CSS3 Is also known as mrd15|mental retardation, autosomal dominant 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 3; CSS3

NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.

NPHP3-RELATED MECKEL-LIKE SYNDROME Is also known as renal-hepatic-pancreatic dysplasia with dandy-walker cyst|meckel-like syndrome type 1|renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome|meckel syndrome type 7|goldston syndrome

Related symptoms:

  • Respiratory insufficiency
  • Atrial septal defect
  • Hypertonia
  • Dilatation
  • Patent ductus arteriosus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NPHP3-RELATED MECKEL-LIKE SYNDROME

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Dandy-Walker malformation

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Abnormal facial shape and Dandy-Walker malformation. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Coarse facial features

Uncommon Symptoms - Between 30% and 50% cases

Hydrocephalus Cerebellar hypoplasia Absent speech Scoliosis Thick eyebrow Depressed nasal bridge Wide mouth Short stature Long eyelashes Abnormal corpus callosum morphology Sparse scalp hair Wide nose Short philtrum Anteverted nares Intrauterine growth retardation Spasticity Visual impairment Feeding difficulties Hyperreflexia Ventriculomegaly Deeply set eye High forehead Ptosis

Rare Symptoms - Less than 30% cases

Hyperactivity Hypertrichosis Hypertelorism Gait ataxia Prominent nose Thick nasal alae Aplasia/Hypoplasia of the distal phalanges of the hand Hypoplasia of the corpus callosum Atrial septal defect Thick vermilion border Protruding ear Abnormal heart morphology Polyhydramnios Occipital encephalocele Choreoathetosis Low-set ears Renal cyst Strabismus Ataxia Holoprosencephaly Encephalocele Hypertonia Macroglossia Hirsutism Cerebral calcification Aggressive behavior Open mouth Intellectual disability, severe Everted lower lip vermilion Highly arched eyebrow High palate Inguinal hernia Cerebellar vermis hypoplasia Hearing impairment Muscular hypotonia Short nose Kyphosis Polydactyly Downslanted palpebral fissures Delayed speech and language development Abnormality of cardiovascular system morphology Delayed skeletal maturation Optic atrophy Hypertension Nystagmus Epicanthus Growth delay Malar flattening Microphthalmia Difficulty walking Abnormality of the basal ganglia Cerebral cortical atrophy Cryptorchidism Flexion contracture Motor delay Macrocephaly Dementia Prominent forehead Mandibular prognathia High-frequency hearing impairment Long face Neurodegeneration Narrow face Pointed chin Self-injurious behavior Aplasia/Hypoplasia of the cerebellum Basal ganglia calcification Pneumonia Morning glory anomaly Posteriorly rotated ears Inability to walk Kyphoscoliosis Joint stiffness Distal muscle weakness Pectus carinatum Talipes Dysmetria Joint hypermobility Generalized-onset seizure Hyporeflexia Narrow forehead Fine hair Broad-based gait Abnormal autonomic nervous system physiology Sparse eyelashes Brittle hair Sparse eyebrow Agenesis of corpus callosum Dystonia Abnormality of the eye Meningocele Irritability Coloboma Prominent nasal bridge Abnormality of eye movement Postaxial polydactyly Tented upper lip vermilion Molar tooth sign on MRI Multiple renal cysts Abnormality of the dentition Breathing dysregulation Failure to thrive Cataract Myopia Tremor Talipes equinovarus Cerebellar atrophy Sensorineural hearing impairment Portal hypertension Abnormal liver parenchyma morphology Myoclonus Hypoplastic toenails Slender finger Dystrophic toenail Brain atrophy Frontal bossing Encephalopathy Macrotia Low anterior hairline EEG abnormality Anxiety Muscular hypotonia of the trunk Severe global developmental delay Tetraplegia Epileptic encephalopathy Sandal gap Thick lower lip vermilion Spastic tetraplegia Duplication of thumb phalanx Brachycephaly Upslanted palpebral fissure Developmental regression Synophrys Midface retrusion Mild microcephaly Behavioral abnormality Small nail Severe hydrocephalus Hydranencephaly Recurrent infections Thin upper lip vermilion Preeclampsia Arachnodactyly Short distal phalanx of finger Hypotelorism Thick upper lip vermilion Pancreatic dysplasia Tapetoretinal degeneration Postaxial foot polydactyly Right ventricular hypertrophy Abnormality of the pancreas Biliary cirrhosis Congenital hepatic fibrosis Bile duct proliferation Cystic renal dysplasia Multicystic kidney dysplasia Pancreatic cysts Hepatic cysts Meningoencephalocele Potter facies Multiple glomerular cysts Choroid plexus cyst Abnormal biliary tract morphology Autism Situs inversus totalis Fusion of the left and right thalami Hepatosplenomegaly Sparse hair Delayed eruption of permanent teeth Lacrimal duct aplasia Respiratory insufficiency Dilatation Patent ductus arteriosus Stage 5 chronic kidney disease Aortic valve stenosis Pulmonary hypoplasia Intestinal malrotation Oligohydramnios Cholestasis Renal dysplasia Large fontanelles Hepatic fibrosis Hand clenching


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