Low-set ears, and Dandy-Walker malformation

Diseases related with Low-set ears and Dandy-Walker malformation

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

Top matches:

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

High match FOWLER SYNDROME

The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).

FOWLER SYNDROME Is also known as epv|cerebral proliferative glomeruloid vasculopathy|fowler syndrome|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydranencephaly, fowler type|hydrocephaly/hydranencephaly due to cerebral vasculopathy|encephaloclastic proliferative vasculopa

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FOWLER SYNDROME

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

Other less relevant matches:

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

Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay|cutis laxa, debre type|cutis laxa with bone dystrophy|cutis laxa with joint laxity and retarded development|arcl2|cutis laxa with congenital disorder of glycosylation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

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

ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Macrocephaly


SOURCES: MESH OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 1; HLS1

Top 5 symptoms//phenotypes associated to Low-set ears and Dandy-Walker malformation

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Seizures Microphthalmia Micrognathia Hypertelorism Macrocephaly Growth delay Cerebellar hypoplasia Depressed nasal bridge Cataract Encephalocele Hypoplasia of the brainstem Strabismus Lissencephaly Absent speech Heterotopia Polyhydramnios Agenesis of corpus callosum Ventriculomegaly Intrauterine growth retardation Visual impairment Hypoplasia of the corpus callosum Posteriorly rotated ears Ventricular septal defect Cleft palate Hand clenching Aplasia/Hypoplasia of the corpus callosum Anteverted nares High palate Downslanted palpebral fissures Cerebellar vermis hypoplasia Short nose Talipes equinovarus

Rare Symptoms - Less than 30% cases

Myopia Anencephaly Deeply set eye Polymicrogyria Preaxial hand polydactyly Retrognathia Pachygyria Postaxial hand polydactyly Large fontanelles Adducted thumb Ataxia Wide anterior fontanel Accessory spleen Abnormality of the pinna Talipes Malar flattening Optic atrophy Polydactyly Abnormality of eye movement Postaxial polydactyly Hyperreflexia Brittle hair Narrow forehead Scoliosis Failure to thrive Cleft lip Camptodactyly Joint hypermobility Sparse eyelashes Arthrogryposis multiplex congenita Decreased fetal movement Flexion contracture Abnormality of the dentition Cystic hygroma Sparse eyebrow Premature birth Prominent forehead Epicanthus Frontal bossing Severe hydrocephalus Wide nasal bridge Prominent occiput Global brain atrophy Thick lower lip vermilion True hermaphroditism Lobar holoprosencephaly Interphalangeal joint contracture of finger Brain atrophy Cystic liver disease Gastroesophageal reflux Cerebral atrophy High, narrow palate Sepsis Everted lower lip vermilion Muscular hypotonia of the trunk Pancreatic fibrosis Cognitive impairment Short stature Abnormal cardiac septum morphology Camptodactyly of finger Elevated serum creatine phosphokinase Aplasia/Hypoplasia of the iris Aplasia/Hypoplasia of the tongue Multicystic kidney dysplasia Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Microcornea Full cheeks Craniosynostosis Sloping forehead Oligohydramnios Ambiguous genitalia Depressed nasal ridge Bowing of the long bones Situs inversus totalis Abnormality of the kidney Urethral atresia Anophthalmia Proteinuria Male pseudohermaphroditism Postaxial foot polydactyly Sclerocornea Asplenia Furrowed tongue Congenital hepatic fibrosis Ureteral duplication Pancreatic cysts Abnormal chorioretinal morphology Poor eye contact Widow's peak Hyperactive deep tendon reflexes Tracheal stenosis Omphalocele Holoprosencephaly Preaxial polydactyly Absent septum pellucidum Abnormal lung lobation Median cleft lip Upper limb undergrowth Broad neck Bilateral cleft lip Bilateral cleft lip and palate Abnormal cortical gyration Oral cleft Preaxial foot polydactyly Complete atrioventricular canal defect Bifid nose Abnormal vagina morphology Arrhinencephaly Laryngeal hypoplasia Duplication of phalanx of hallux Bifid uterus Agenesis of the diaphragm Adrenal gland dysgenesis Cleft in skull base Pulmonary hypoplasia Hydronephrosis Prominent metopic ridge Webbed neck Abnormal isoelectric focusing of serum transferrin Delayed CNS myelination Interrupted aortic arch Respiratory distress Edema Behavioral abnormality Clinodactyly Upslanted palpebral fissure Micropenis Hypermetropia Abnormality of the foot Hypotelorism Hypospadias Apraxia Oculomotor apraxia Plagiocephaly Cutaneous syndactyly Scrotal hypoplasia Pleural effusion Overlapping toe Pericardial effusion Overlapping fingers Cerebellar dysplasia Kinked brainstem Cryptorchidism Redundant skin Oxycephaly Prominent nasal bridge Intellectual disability, severe Microretrognathia Hypsarrhythmia Pneumonia Cerebral calcification High forehead Abnormality of the eye Irritability Coloboma Short philtrum Highly arched eyebrow Ptosis Renal cyst Open mouth Tented upper lip vermilion Molar tooth sign on MRI Occipital encephalocele Meningocele Multiple renal cysts Breathing dysregulation Morning glory anomaly Abnormality of metabolism/homeostasis Dilatation Hypertension Pterygium Delayed speech and language development Optic nerve hypoplasia Areflexia Respiratory insufficiency Facial palsy Microtia Muscular dystrophy Retinal detachment Intellectual disability, profound Multiple pterygia Limb joint contracture Hydranencephaly Fetal akinesia sequence Akinesia Congenital muscular dystrophy Partial agenesis of the corpus callosum Weak cry Gonadal dysgenesis Retinal dysplasia Corpus callosum atrophy Peters anomaly Type II lissencephaly Agyria Remnants of the hyaloid vascular system Nystagmus Spasticity Skeletal muscle atrophy Severe intrauterine growth retardation Hip dislocation Abnormality of the skeletal system Hematuria Long philtrum Midface retrusion Hernia Inguinal hernia Narrow mouth Pes planus Feeding difficulties in infancy Postnatal growth retardation Carious teeth Feeding difficulties Confusion Flat face High myopia Sparse hair Congenital hip dislocation Cutis laxa Coarse hair Growth abnormality Glaucoma Prominent supraorbital ridges Lipodystrophy Motor delay Ectodermal dysplasia Posterior fossa cyst Joint stiffness Tremor Tubulointerstitial nephritis Cerebellar atrophy Dystonia Kyphosis Scaphocephaly Hyporeflexia Gait ataxia Kyphoscoliosis Protruding ear Distal muscle weakness Muscular hypotonia Pectus carinatum Hypoplastic toenails Dysmetria Nephritis Inability to walk Generalized-onset seizure Fine hair Choreoathetosis Broad-based gait Abnormal autonomic nervous system physiology Trigonocephaly Proximal tibial hypoplasia


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