Low-set ears, and Microtia

Diseases related with Low-set ears and Microtia

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 8; MGORS8

The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE; AFDCIN

Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).

BRANCHIOOTIC SYNDROME Is also known as bo syndrome 1|branchiootic dysplasia

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRANCHIOOTIC SYNDROME

Other less relevant matches:

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 10; DBA10

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 4; MGORS4

High match COG1-CDG

COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.

COG1-CDG Is also known as congenital disorder of glycosylation type iig|cdgii/cog1 cerebrocostomandibular-like syndrome|cdg iig|cdg2g|cdg-iig|congenital disorder of glycosylation type 2g|cdgiig|carbohydrate deficient glycoprotein syndrome type iig|cdg syndrome type iig

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about COG1-CDG

Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SWEENEY-COX SYNDROME; SWCOS

cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 5; MGORS5

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

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Narrow mouth Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cleft palate Cryptorchidism Global developmental delay Intellectual disability Intrauterine growth retardation Hearing impairment Thick vermilion border Downslanted palpebral fissures Feeding difficulties Long philtrum High palate Hypertelorism Generalized hypotonia Posteriorly rotated ears Growth delay Choanal atresia Midface retrusion Conductive hearing impairment Patent ductus arteriosus Hypoplasia of the maxilla

Rare Symptoms - Less than 30% cases

Muscular hypotonia Broad neck Thin upper lip vermilion Talipes equinovarus Wide nasal bridge Abnormal facial shape Clinodactyly Macrocytic anemia Slender long bone Birth length less than 3rd percentile Atresia of the external auditory canal Anemia Patellar aplasia Cupped ear Delayed skeletal maturation Mandibulofacial dysostosis Gastroesophageal reflux Delayed speech and language development Malar flattening Retrognathia Seizures Prominent metopic ridge Aciduria Lethargy Neutropenia Bilateral talipes equinovarus Cutaneous syndactyly Abnormality of the skin Overfolded helix Pancytopenia Generalized hirsutism Psychosis Incoordination Small for gestational age Abnormal heart morphology Long fingers Upper eyelid coloboma Short attention span Epicanthus Ataxia Arthritis Feeding difficulties in infancy Developmental regression Median cleft palate Thrombocytopenia Skin rash Velopharyngeal insufficiency Widow's peak Asplenia Short columella Short clavicles Acidosis Methylmalonic acidemia Rheumatoid arthritis Hypermetropia Strabismus Abnormality of the skeletal system Absent speech Hypospadias Encephalopathy Upslanted palpebral fissure Hyperactivity High forehead Pes planus Deeply set eye Long face Toe clinodactyly Downturned corners of mouth Small hand Everted lower lip vermilion Short foot Tapered finger Epileptic encephalopathy Long eyelashes Sandal gap Plagiocephaly Tented upper lip vermilion Irregular femoral epiphysis Small earlobe High anterior hairline Delayed ability to walk Megaloblastic anemia Juvenile rheumatoid arthritis Stomatitis Methylmalonic aciduria Homocystinuria Glossitis Hyperhomocystinemia Decreased methylcobalamin Megaloblastic bone marrow Underdeveloped nasal alae Decreased adenosylcobalamin Hypoplasia of the capital femoral epiphysis Decreased methionine synthase activity Cystathioninuria Cystathioninemia Motor delay Micropenis Triangular face Microdontia Elbow dislocation Mild global developmental delay Irregular epiphyses Wide anterior fontanel Low-set, posteriorly rotated ears Hirsutism Abnormal nasolacrimal system morphology Laryngomalacia Preauricular pit Mixed hearing impairment Severe sensorineural hearing impairment Glossoptosis Obstructive sleep apnea Upper airway obstruction Body odor Abnormality of the outer ear Branchial cyst Abnormality of the inner ear Branchial fistula Tracheobronchomalacia Lip pit Cochlear malformation Hypoplasia of the cochlea Branchial anomaly Sleep apnea Preauricular skin tag Dilatated internal auditory canal Acetabular dysplasia Ptosis Renal hypoplasia Bilateral cryptorchidism Macrotia Decreased body weight Flared metaphysis Femoral bowing Anotia Broad finger Facial asymmetry Bilateral choanal atresia Decreased head circumference Pretragal ectopia Sensorineural hearing impairment Facial palsy Abnormality of the kidney Apnea Abnormality of the pinna Morphological abnormality of the middle ear Ventricular septal defect Anal atresia Enlarged cisterna magna Postnatal growth retardation Smooth philtrum Rhizomelia Progressive microcephaly Coxa valga Failure to thrive in infancy Vertebral segmentation defect Pierre-Robin sequence Butterfly vertebrae Osteopenia Abnormal isoelectric focusing of serum transferrin Syndactyly Cerebellar hypoplasia Brachycephaly Craniosynostosis Short philtrum Narrow chest Talipes Intellectual disability, moderate Kyphoscoliosis Respiratory insufficiency Scoliosis Respiratory distress Hernia Jaundice Congenital diaphragmatic hernia Ectopic kidney Increased mean corpuscular volume Cleft soft palate Reticulocytopenia Thick lower lip vermilion Short neck Emphysema Thoracic scoliosis Genu recurvatum Hypoplastic labia majora Labial hypoplasia Breast hypoplasia Lateral clavicle hook Hypertension Tented philtrum


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