Hypertelorism, and Abnormality of the pinna

Diseases related with Hypertelorism and Abnormality of the pinna

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 58; MRD58

Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 2; FGS2

Other less relevant matches:

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

Neu-Laxova syndrome-2 is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected patients have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by Acuna-Hidalgo et al., 2014).For a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME 2; NLS2

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

Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).

NEUROFIBROMATOSIS-NOONAN SYNDROME Is also known as nfns|neurofibromatosis type 1-noonan syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Cryptorchidism
  • Ptosis
  • Downslanted palpebral fissures


SOURCES: ORPHANET MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 4; GAMOS4

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

Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.

DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA Is also known as microdontia-type i microtia-deafness syndrome|deafness, congenital, with labyrinthine aplasia, microtia, and microdontia|deafness with lamm|lamm syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA

Top 5 symptoms//phenotypes associated to Hypertelorism and Abnormality of the pinna

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Abnormality of the pinna. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Seizures Micrognathia Short stature Global developmental delay

Rare Symptoms - Less than 30% cases

Feeding difficulties Pulmonic stenosis Webbed neck Short neck Intrauterine growth retardation Ptosis Growth delay Scoliosis Upslanted palpebral fissure Downslanted palpebral fissures Cryptorchidism Protruding ear Prominent nose Prominent forehead Dysphagia Wide mouth Wide nasal bridge Microtia High palate Strabismus Macrotia Autistic behavior Abnormality of the nervous system Thin upper lip vermilion Focal segmental glomerulosclerosis Brachycephaly Elevated serum creatine phosphokinase Intellectual disability, mild Tremor Pain Diffuse mesangial sclerosis Autism Failure to thrive Glomerulosclerosis Visual impairment Prolonged bleeding time Multiple cafe-au-lait spots Abnormality of the helix Abnormality of the lymphatic system Abdominal wall muscle weakness Spasticity Cerebral atrophy Smooth philtrum Cerebellar hypoplasia Proteinuria Arachnodactyly Stage 5 chronic kidney disease Polymicrogyria Tapered finger Nephrotic syndrome Falls Unsteady gait Skin tags Abnormality of the outer ear Delayed gross motor development Congenital sensorineural hearing impairment High hypermetropia Increased number of teeth Arachnoid cyst Abnormal cranial nerve morphology Pointed chin Conical tooth Anteverted ears Profound sensorineural hearing impairment Microtia, first degree Cochlear aplasia Aplasia of the inner ear Widely spaced teeth Tall stature Abnormality of the face Mildly elevated creatine phosphokinase Wide nose Everted lower lip vermilion Broad nasal tip Intention tremor Frequent falls Cupped ear Impaired social interactions Microdontia Hearing impairment Sensorineural hearing impairment Synophrys Long face Hypodontia Underdeveloped nasal alae Abnormality of the thorax Hypertrophic cardiomyopathy Specific learning disability Poor speech High anterior hairline Bilateral cleft lip and palate Bilateral cleft lip Ectropion Sparse eyebrow Sparse eyelashes Single transverse palmar crease Bulbous nose Cleft lip Facial asymmetry Hernia Midface retrusion Epicanthus Thick vermilion border Euryblepharon Underdeveloped superior crus of antihelix Frontal upsweep of hair Large forehead Anteriorly placed anus Relative macrocephaly Dental crowding Plagiocephaly Neonatal hypotonia Hyperactivity Incoordination Constipation Abnormal heart morphology Frontal bossing Macrocephaly Ectropion of lower eyelids Bilateral cleft palate Low-set, posteriorly rotated ears Depressed nasal bridge Delayed ability to walk Intellectual disability, severe Intellectual disability, moderate Thickened helices Mild short stature Poor suck Hyperpigmentation of the skin Narrow forehead Joint stiffness Dolichocephaly Pectus carinatum Atrial septal defect Abnormality of the skeletal system Bifid nasal tip Small cerebral cortex Agenesis of lateral incisor Cognitive impairment Abnormal cortical gyration Rocker bottom foot Depressed nasal ridge Decreased fetal movement Sloping forehead Ichthyosis Proptosis Edema Motor delay Cleft palate Neurological speech impairment Hyponasal speech Palate fistula Absent stapes


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