Low-set ears, and Narrow forehead

Diseases related with Low-set ears and Narrow forehead

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

Top matches:

Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

Other less relevant matches:

SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME Is also known as birk-flusser syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome is a rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about DIFFUSE CEREBRAL AND CEREBELLAR ATROPHY-INTRACTABLE SEIZURES-PROGRESSIVE MICROCEPHALY SYNDROME

PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 106; MRX106

15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

15Q14 MICRODELETION SYNDROME Is also known as del(15)(q14)|monosomy 15q14

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 15Q14 MICRODELETION SYNDROME

5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

NMIHBA is a severe, autosomal recessive, neurodevelopmental, and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profound intellectual disability. Affected individuals have microcephaly with accompanying dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination (summary by Zollo et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA

Top 5 symptoms//phenotypes associated to Low-set ears and Narrow forehead

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Low-set ears and Narrow forehead. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Spasticity Hyperreflexia Hypoplasia of the corpus callosum Absent speech Abnormal facial shape Low-set, posteriorly rotated ears Short stature Cerebral visual impairment Wide nasal bridge High palate Depressed nasal bridge Hypertelorism Bulbous nose Posteriorly rotated ears Progressive microcephaly Delayed speech and language development Hypotelorism

Rare Symptoms - Less than 30% cases

Postnatal microcephaly Nystagmus Visual impairment Motor delay Babinski sign Delayed myelination Clinodactyly Long philtrum Sparse hair Protruding ear Skeletal muscle atrophy Agenesis of corpus callosum Dysarthria Cerebral cortical atrophy Cerebellar hypoplasia CNS hypomyelination Encephalopathy Cerebellar vermis atrophy High forehead Sloping forehead Strabismus Anteverted nares Upslanted palpebral fissure Ataxia Hypertonia Abnormality of the skeletal system Drooling Astigmatism Ventricular septal defect Short philtrum Epicanthus Generalized tonic-clonic seizures Cognitive impairment Cerebellar atrophy Muscular hypotonia of the trunk Cerebral atrophy Highly arched eyebrow Atrial septal defect Thick vermilion border Pectus carinatum Everted lower lip vermilion Failure to thrive Arachnodactyly Smooth philtrum Proptosis Deeply set eye Abnormal cardiac septum morphology Intellectual disability, moderate Prominent nasal bridge Cleft lip Cleft palate Autism Spastic diplegia Wide nose Decreased testicular size Open mouth Amblyopia Finger clinodactyly Bicuspid aortic valve Supernumerary nipple Inguinal hernia High hypermetropia Slender finger Periventricular leukomalacia Long face Abnormality of the dentition Kyphosis Immunodeficiency Oral cleft Frontal bossing Convex nasal ridge Narrow chest Long foot Cataract Flexion contracture Optic atrophy Talipes equinovarus Blindness Macrotia Abnormality of the cerebral white matter Talipes Overweight Hypsarrhythmia Tetraparesis Clonus Narrow palate Spastic tetraparesis Plagiocephaly Multiple joint contractures Hypoventilation Central hypotonia Turricephaly Long fingers Pointed chin Brachycephaly Tented upper lip vermilion Laryngomalacia Acne Biparietal narrowing Everted upper lip vermilion Micrognathia Muscular hypotonia Macrocephaly Thin upper lip vermilion Craniosynostosis Large hands Blepharophimosis Broad forehead Small for gestational age Sleep disturbance Low posterior hairline Short palpebral fissure Stereotypy Exotropia Obsessive-compulsive behavior Hypermetropia Malar flattening Retrognathia Progressive cerebellar ataxia Syndactyly Gait ataxia Toe syndactyly Dysmetria Small hand Tapered finger Chorea Ptosis Epileptic encephalopathy Generalized-onset seizure Diplopia Incoordination Dilated fourth ventricle Growth delay Intellectual disability, severe Difficulty walking Thickened helices Poor speech Spastic paraplegia Progressive spasticity Abnormal CNS myelination Nasogastric tube feeding in infancy Broad-based gait Febrile seizures Feeding difficulties Dysphagia Mild short stature Short neck Prominent forehead Dolichocephaly Pulmonic stenosis Webbed neck Hyperpigmentation of the skin Poor suck Tremor Thick eyebrow Clinodactyly of the 5th finger Inability to walk Hearing impairment Downslanted palpebral fissures Short nose Severe muscular hypotonia Abnormality of the pinna Thin vermilion border Triangular face Cortical gyral simplification Brain atrophy Leukodystrophy Mutism Overfolded helix Global brain atrophy Long toe Hypospadias Rhabdomyolysis Agitation Hirsutism Palpebral edema Abnormal cerebellum morphology Cerebellar vermis hypoplasia Thick lower lip vermilion Long eyelashes Low anterior hairline Aplasia/Hypoplasia of the corpus callosum Partial agenesis of the corpus callosum Limb hypertonia Status epilepticus Congenital microcephaly Nonprogressive cerebellar ataxia Upper eyelid edema Ventriculomegaly Pneumonia Neurodegeneration Focal-onset seizure Central hypoventilation


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