Low-set ears, and Delayed speech and language development

Diseases related with Low-set ears and Delayed speech and language development

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36; COXPD36

MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome|prelds

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

Intellectual developmental disorder with persistence of fetal hemoglobin is characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin (HbF) (summary by Dias et al., 2016).Many of these features overlap with chromosome 2p16.1-p15 deletion syndrome (OMIM ).

INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN Is also known as dias-logan syndrome|intellectual developmental disorder with hereditary persistence of fetal hemoglobin

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Strabismus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN

Other less relevant matches:

INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

VCRL2 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017).For a discussion of genetic heterogeneity of VCRL, see VCRL1 (OMIM ).

CONGENITAL VERTEBRAL-CARDIAC-RENAL ANOMALIES SYNDROME Is also known as congenital nad deficiency disorder|congenital nad deficiency disorder 2|kynureninase deficiency, complete

Related symptoms:

  • Microcephaly
  • Low-set ears
  • Delayed speech and language development
  • Frontal bossing
  • Syndactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL VERTEBRAL-CARDIAC-RENAL ANOMALIES SYNDROME

16P13.2 MICRODELETION SYNDROME Is also known as del(16)(p13.2)|monosomy 16p13.2

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 16P13.2 MICRODELETION SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

Ververi-Brady syndrome is a disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERVERI-BRADY SYNDROME; VERBRAS

Top 5 symptoms//phenotypes associated to Low-set ears and Delayed speech and language development

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Absent speech Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Low-set ears and Delayed speech and language development. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Seizures Autism Thin upper lip vermilion Everted lower lip vermilion Motor delay Autistic behavior Strabismus Ptosis Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases

Joint laxity Cupped ear Hypertelorism Syndactyly Growth delay Narrow forehead Brachycephaly Unsteady gait Spasticity Dysarthria Tremor Encephalopathy Intellectual disability, mild High palate Hypoplasia of the corpus callosum Aggressive behavior Upslanted palpebral fissure Deeply set eye Neonatal hypotonia Epicanthus Generalized tonic-clonic seizures Trigonocephaly Scoliosis Short stature Prominent nose Premature adrenarche Central sleep apnea Perseveration Speech apraxia Mildly elevated creatine phosphokinase Delayed cranial suture closure Hallux valgus Intention tremor Hypoplastic left heart Large fontanelles Apraxia Cognitive impairment Micropenis Clinodactyly of the 5th finger Frequent falls Hemivertebrae Chronic kidney disease Cryptorchidism Muscular hypotonia Restrictive deficit on pulmonary function testing Ataxia Falls Broad nasal tip Epileptic encephalopathy Cerebellar vermis atrophy Pain Incoordination Intrauterine growth retardation Cerebral visual impairment Diplopia Generalized-onset seizure Elevated serum creatine phosphokinase Renal hypoplasia Abnormality of the nervous system Wide mouth Chorea Wide nose Progressive cerebellar ataxia Tapered finger Small hand Dysmetria Toe syndactyly Gait ataxia Clinodactyly Wide nasal bridge Smooth philtrum Visual impairment Dilated fourth ventricle Rhizomelia Drooling Talipes Tented upper lip vermilion Long face Synophrys Dolichocephaly Attention deficit hyperactivity disorder EEG abnormality Overfolded helix Blue sclerae Joint hypermobility Retrognathia Midface retrusion Cerebellar atrophy Downturned corners of mouth Cafe-au-lait spot Cerebral atrophy Intellectual disability, severe Depressed nasal bridge Abnormality of mitochondrial metabolism Exercise intolerance Aciduria Poor speech Hypoglycemia Headache Sensorineural hearing impairment Hearing impairment Dental crowding Pointed chin Narrow chest Nasogastric tube feeding in infancy Patent ductus arteriosus Frontal bossing Hyperplasia of the maxilla Sandal gap Hypopigmentation of the skin Inability to walk Flat face Abnormal cardiac septum morphology Narrow mouth Short nose Brachydactyly Abnormal CNS myelination Narrow palate Progressive spasticity Severe muscular hypotonia Postnatal microcephaly Broad-based gait Hypotelorism Febrile seizures Spastic paraplegia Difficulty walking Babinski sign Hyperreflexia Failure to thrive Impaired social interactions


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