Hypertelorism, and Dandy-Walker malformation

Diseases related with Hypertelorism and Dandy-Walker malformation

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

Top matches:

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures (Twigg et al., 2015).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 6; CRS6

CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

Other less relevant matches:

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

Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by Kolanczyk et al., 2015).For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RITSCHER-SCHINZEL SYNDROME 2; RTSC2

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

High match MECKEL SYNDROME

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HEART AND BRAIN MALFORMATION SYNDROME; HBMS

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1 Is also known as rhpd

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Respiratory insufficiency
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13

Top 5 symptoms//phenotypes associated to Hypertelorism and Dandy-Walker malformation

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Cerebellar vermis hypoplasia Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Abnormal facial shape Growth delay Microphthalmia Postaxial polydactyly Microcephaly Scoliosis Pulmonary hypoplasia High palate Patent ductus arteriosus Hydrocephalus Low-set ears Molar tooth sign on MRI Aplasia/Hypoplasia of the corpus callosum Ventricular septal defect Ptosis Wide anterior fontanel Renal cyst Ambiguous genitalia Encephalocele Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases

Midface retrusion Spontaneous abortion Absent speech Cleft palate Asplenia Seizures Renal dysplasia Prominent occiput Sloping forehead Upslanted palpebral fissure Highly arched eyebrow Pancreatic fibrosis Short philtrum Occipital encephalocele Oligohydramnios Bowing of the long bones Posteriorly rotated ears Relative macrocephaly Intestinal malrotation Respiratory insufficiency Abnormal cardiac septum morphology Coarse facial features Camptodactyly Postaxial hand polydactyly Atrial septal defect Situs inversus totalis Cleft lip Everted lower lip vermilion Deeply set eye Cerebellar hypoplasia Pancreatic cysts Brachycephaly Intellectual disability, severe High forehead Abnormality of the kidney Prominent forehead Epicanthus Depressed nasal bridge Craniosynostosis Micrognathia Macrocephaly Ataxia Short stature Sensorineural hearing impairment Strabismus Global brain atrophy Cleft soft palate High, narrow palate Delayed CNS myelination Sepsis Bifid tongue Brain atrophy Widow's peak Narrow forehead Hypoplastic pelvis Interphalangeal joint contracture of finger Thoracic dysplasia Prominent metopic ridge Hyperactive deep tendon reflexes Poor eye contact Thick lower lip vermilion Camptodactyly of finger Potter facies Abnormality of the pinna Lobulated tongue Accessory spleen Aplasia/Hypoplasia of the iris Abnormal chorioretinal morphology Urethral atresia Aplasia/Hypoplasia of the tongue True hermaphroditism Hypoplastic facial bones Squared iliac bones Lobar holoprosencephaly Cystic liver disease Flat acetabular roof Visual impairment Hyperreflexia Wide nasal bridge Anteverted nares Hypoplasia of the corpus callosum Cerebral atrophy Horizontal ribs Polyhydramnios Gastroesophageal reflux Muscular hypotonia of the trunk Interrupted aortic arch Intrauterine growth retardation Hand clenching Preauricular pit Prominent nose Anal atresia Ureteral duplication Narrow chest Type I diabetes mellitus Skeletal dysplasia Polycystic kidney dysplasia Macrotia Respiratory failure Enlarged kidney Hepatic fibrosis Polysplenia Biliary cirrhosis Pancreatic dysplasia Bile duct proliferation Ureteral atresia Short sternum Hepatic cysts Portal fibrosis Multiple glomerular cysts Limb undergrowth Renal hypoplasia Flexion contracture Diabetes mellitus Hepatomegaly Bell-shaped thorax Glutaric acidemia Short neck Natal tooth Renal insufficiency Thoracic hypoplasia Preaxial polydactyly Abnormal heart morphology Acidosis Omphalocele Microretrognathia Jaundice Stage 5 chronic kidney disease Short ribs Cirrhosis Hepatic failure Polymicrogyria Cholestasis Rhizomelia Aortic valve stenosis Coloboma Congenital hepatic fibrosis Triphalangeal thumb Hypospadias Inguinal hernia Micropenis Retinopathy Retinal dystrophy Congenital diaphragmatic hernia Apraxia Tall stature Oculomotor apraxia Aplasia/Hypoplasia of the cerebellum Tubulointerstitial nephritis Nephronophthisis Abnormality of the clavicle Delayed speech and language development Behavioral abnormality Kyphosis Short nose Hyperactivity Autism Aggressive behavior Posterior fossa cyst Scaphocephaly Synophrys Turricephaly Muscular hypotonia Ventriculomegaly Cerebellar atrophy Agenesis of corpus callosum Low anterior hairline Spina bifida Spina bifida occulta Plagiocephaly Delayed cranial suture closure Anterior plagiocephaly Hypoplastic toenails Cognitive impairment Abnormality of the dentition Proteinuria Sparse hair Hematuria Ectodermal dysplasia Sparse eyelashes Trigonocephaly Sparse eyebrow Nephritis Developmental regression Thick eyebrow Furrowed tongue Talipes Tented upper lip vermilion Meningocele Multiple renal cysts Breathing dysregulation Morning glory anomaly Cataract Optic atrophy Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Microcornea Abnormality of eye movement Full cheeks Depressed nasal ridge Multicystic kidney dysplasia Anophthalmia Preaxial hand polydactyly Anencephaly Male pseudohermaphroditism Postaxial foot polydactyly Sclerocornea Open mouth Prominent nasal bridge Mild microcephaly Convex nasal ridge Duplication of thumb phalanx Abnormality of the skeletal system Syndactyly Clinodactyly Broad forehead Poor speech Short distal phalanx of finger Broad nasal tip Renal agenesis Low posterior hairline Irritability Overlapping toe Broad hallux Protruding tongue Arachnoid cyst Broad neck Nystagmus Hypertension Malar flattening Pneumonia Abnormality of the eye Unicoronal synostosis


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