Low-set ears, and Abnormality of the pinna

Diseases related with Low-set ears and Abnormality of the pinna

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


Top matches:

Low match MEIER-GORLIN SYNDROME 8; MGORS8


Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • Ptosis
  • Low-set ears
  • Narrow mouth


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 8; MGORS8

Low match RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY


Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by Witzel et al., 2017).For a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM ).

RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY Is also known as neutrophil-specific granule deficiency

Related symptoms:

  • Global developmental delay
  • Anemia
  • Abnormality of the skeletal system
  • Diarrhea
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY

Low match INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN


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

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Other less relevant matches:

Low match OROFACIAL CLEFT 15; OFC15


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

Low match NEU-LAXOVA SYNDROME 2; NLS2


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

Low match POLYVALVULAR HEART DISEASE SYNDROME


Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about POLYVALVULAR HEART DISEASE SYNDROME

Low match OTOFACIOCERVICAL SYNDROME 2; OTFCS2


Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013).For a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 (OMIM ).

OTOFACIOCERVICAL SYNDROME 2; OTFCS2 Is also known as ofc2

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Low-set ears
  • Downslanted palpebral fissures
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about OTOFACIOCERVICAL SYNDROME 2; OTFCS2

Low match MECKEL SYNDROME, TYPE 8; MKS8


Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Low-set ears
  • Talipes equinovarus
  • Short neck


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 8; MKS8

Low match NOONAN SYNDROME 7; NS7


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

Low match NEUROFIBROMATOSIS-NOONAN SYNDROME


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

Top 5 symptoms//phenotypes associated to Low-set ears and Abnormality of the pinna

Symptoms // Phenotype % cases
Hypertelorism Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Pulmonic stenosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short neck Downslanted palpebral fissures Microcephaly Micrognathia Abnormality of the skeletal system Ptosis

Rare Symptoms - Less than 30% cases


Global developmental delay Retrognathia Cleft palate Midface retrusion Blue sclerae Cupped ear Epicanthus Depressed nasal ridge Dysphagia Scoliosis Abnormal facial shape Webbed neck Cleft lip Broad forehead Dolichocephaly High palate Cutaneous syndactyly Mixed hearing impairment Down-sloping shoulders Lacrimal duct stenosis Preauricular pit Alacrima Mastoiditis Talipes equinovarus Long eyelashes Multiple cafe-au-lait spots Scapular winging Microretrognathia Microphthalmia Dental malocclusion Gliosis Tapered finger Abnormality of the helix Abnormality of the lymphatic system Carious teeth Intellectual disability, moderate Clinodactyly Syndactyly Hearing impairment Abnormal heart valve morphology Short nose Postaxial hand polydactyly Polydactyly Feeding difficulties Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy Thickened helices Abnormality of the face Mild short stature Poor suck Hyperpigmentation of the skin Narrow forehead Pectus carinatum Prominent forehead Atrial septal defect Abnormality of the thorax Depressed nasal bridge Prolonged bleeding time Cognitive impairment Abnormality of the kidney Polycystic kidney dysplasia Narrow chest Cleft upper lip Abdominal distention Specific learning disability Encephalocele Renal dysplasia Aortic valve stenosis Generalized hypotonia Anophthalmia Pericardial effusion Occipital encephalocele Enlarged kidney Hyperechogenic kidneys Equinovarus deformity Tricuspid regurgitation Abnormal cortical gyration Dental crowding Recurrent bacterial infections Everted lower lip vermilion Joint hypermobility Autistic behavior Joint laxity Thin upper lip vermilion Autism Cerebellar atrophy Hypoplasia of the corpus callosum Delayed speech and language development Strabismus Myelofibrosis Fragile nails Myelodysplasia Chronic diarrhea Hernia Recurrent otitis media Nail dysplasia Neutropenia Pneumonia Thrombocytopenia Recurrent infections Diarrhea Anemia Bilateral cryptorchidism Renal hypoplasia Thick vermilion border Microtia Narrow mouth Overfolded helix Upslanted palpebral fissure Mitral valve prolapse Intrauterine growth retardation Abnormality of the skin Prominent nose Long face Joint hyperflexibility Short philtrum Delayed skeletal maturation Arrhythmia Rocker bottom foot Decreased fetal movement Sloping forehead Ichthyosis Proptosis Edema Growth delay Protruding ear Hyponasal speech Palate fistula Agenesis of lateral incisor Bilateral cleft palate Euryblepharon Ectropion of lower eyelids High anterior hairline Bilateral cleft lip and palate Bilateral cleft lip Ectropion Sparse eyebrow Sparse eyelashes Single transverse palmar crease Bulbous nose Abdominal wall muscle weakness



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