Micrognathia, and Low-set ears

Diseases related with Micrognathia and Low-set ears

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


Top matches:

Medium 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

Medium match TETRAAMELIA SYNDROME 2; TETAMS2


Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia (Szenker-Ravi et al., 2018).For a discussion of genetic heterogeneity of TETAMS, see {273395}.

TETRAAMELIA SYNDROME 2; TETAMS2 Is also known as tetraamelia syndrome 2 with pulmonary agenesis

Related symptoms:

  • Micrognathia
  • Low-set ears
  • Ventricular septal defect
  • Cleft lip
  • Oral cleft


SOURCES: OMIM MENDELIAN

More info about TETRAAMELIA SYNDROME 2; TETAMS2

Medium match DISTAL MONOSOMY 1Q


1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.

DISTAL MONOSOMY 1Q Is also known as telomeric deletion 1q|distal deletion 1q|monosomy 1qter

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about DISTAL MONOSOMY 1Q

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match PARIS-TROUSSEAU THROMBOCYTOPENIA


Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

PARIS-TROUSSEAU THROMBOCYTOPENIA Is also known as chromosome 11q23 deletion syndrome

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about PARIS-TROUSSEAU THROMBOCYTOPENIA

Medium 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

Medium 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

Medium 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

Medium match CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3


Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3

Medium match HYDROLETHALUS


Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Low-set ears
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about HYDROLETHALUS

Medium match MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA


MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Is also known as mfda

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA

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

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the pinna Hypertelorism Ptosis

Rare Symptoms - Less than 30% cases


Dental crowding Rocker bottom foot Cryptorchidism Retrognathia Edema High palate Cupped ear Clinodactyly Syndactyly Preauricular pit Microphthalmia Abnormal facial shape Decreased fetal movement Hearing impairment Short stature Microretrognathia Global developmental delay Hydrocephalus Absent septum pellucidum Anophthalmia Laryngomalacia Postaxial hand polydactyly Premature birth Bifid uvula Micromelia Low-set, posteriorly rotated ears Deeply set eye Polyhydramnios Agenesis of corpus callosum Abnormality of cardiovascular system morphology Cutaneous photosensitivity Anencephaly Brain atrophy Congenital cataract Arthrogryposis multiplex congenita Cerebellar hypoplasia Narrow mouth Ventriculomegaly Talipes equinovarus Flexion contracture Cataract Mastoiditis Alacrima Lacrimal duct stenosis Down-sloping shoulders Submucous cleft hard palate Arrhinencephaly Abnormality of the respiratory system Everted lower lip vermilion Delayed eruption of primary teeth Mandibulofacial dysostosis Eyelid coloboma Trismus Stenosis of the external auditory canal Glossoptosis Hydroureter Sparse eyebrow Bicuspid aortic valve Sparse eyelashes Sparse and thin eyebrow Preauricular skin tag Hypoplasia of the maxilla Facial asymmetry Microtia Coloboma Protruding ear Conductive hearing impairment Alopecia Depressivity Short nose Abnormality of the dentition Wide nasal bridge Gingival cleft Tracheal atresia Abnormality of the fallopian tube Abnormality of the sense of smell Unilateral cleft lip Mixed hearing impairment Cutaneous syndactyly Thick vermilion border Abnormality of the cardiovascular system Ichthyosis Pulmonary hypoplasia Proptosis Short neck Bilateral cleft lip Ankyloglossia Scoliosis Megakaryocyte dysplasia Prolonged bleeding time Radial deviation of finger Trigonocephaly Pyloric stenosis Finger syndactyly Oral cleft Bilateral lung agenesis Thrombocytopenia Tetraamelia Long philtrum Hypoplastic pulmonary veins Hepatomegaly Seizures Aplasia/Hypoplasia of the corpus callosum Round face Thin vermilion border Smooth philtrum Prominent forehead Epicanthus Sloping forehead Depressed nasal ridge Depressed nasal bridge Tricuspid regurgitation Scapular winging Long eyelashes Blue sclerae Dental malocclusion Gliosis Tapered finger Carious teeth Intellectual disability, moderate Renal hypoplasia Abnormality of the skeletal system Downslanted palpebral fissures Bilateral cryptorchidism Abnormal heart valve morphology Aortic valve stenosis Cleft lip Ventricular septal defect Mitral valve prolapse Abnormality of the skin Prominent nose Long face Joint hyperflexibility Pulmonic stenosis Dolichocephaly Broad forehead Short philtrum Delayed skeletal maturation Arrhythmia Abnormal cortical gyration Lower eyelid coloboma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and High, narrow palate, related diseases and genetic alterations Autoimmunity and Paraplegia, related diseases and genetic alterations Myopathy and Proteinuria, related diseases and genetic alterations Cleft palate and Wide nasal bridge, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more