Low-set ears, and Long face

Diseases related with Low-set ears and Long face

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

Top 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

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

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly|myasthenic syndrome, congenital, ie, formerly|cms ie, formerly

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

Other less relevant matches:

MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.

OTOFACIOCERVICAL SYNDROME Is also known as fara-chlupackova syndrome|ofc1|ofc syndrome|ofc

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about OTOFACIOCERVICAL SYNDROME

15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

15Q14 MICRODELETION SYNDROME Is also known as del(15)(q14)|monosomy 15q14

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 15Q14 MICRODELETION SYNDROME

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Short stature Delayed speech and language development Downslanted palpebral fissures Microcephaly Posteriorly rotated ears Scoliosis Mandibular prognathia Bulbous nose Abnormal facial shape Hyperactivity Protruding ear Long philtrum Deeply set eye Micrognathia High forehead Absent speech Pointed chin Dolichocephaly Ptosis Intellectual disability, mild

Rare Symptoms - Less than 30% cases

Tented upper lip vermilion Autism Prominent nasal bridge Abnormal cardiac septum morphology Motor delay EEG abnormality Hyperreflexia Talipes equinovarus Immunodeficiency Kyphosis Aggressive behavior Convex nasal ridge Joint laxity Atrial septal defect Unsteady gait Ventricular septal defect Highly arched eyebrow Tapered finger Long neck Long eyelashes Delayed ability to walk Abnormality of the skeletal system Anteverted nares Macrotia Everted lower lip vermilion Synophrys Decreased fetal movement Strabismus Delayed skeletal maturation Ataxia Short philtrum Broad forehead Prominent nose Macrocephaly Pes planus Gait ataxia Upslanted palpebral fissure Ventriculomegaly Cerebellar atrophy Intrauterine growth retardation Narrow mouth Growth delay Respiratory distress Dental crowding Neonatal hypotonia Cerebral cortical atrophy Cerebellar hypoplasia Long fingers Large hands Disproportionate tall stature Kyphoscoliosis Long foot Megalencephaly Proptosis Sparse eyebrow Communicating hydrocephalus Tented philtrum Slender build Prominent forehead Myopia Tall stature Cognitive impairment Abnormal cerebellum morphology Lumbar hyperlordosis High myopia Difficulty walking Hyperlordosis Overgrowth Frontal bossing Arachnodactyly Expressive language delay Triangular face Malar flattening Hydrocephalus Metopic synostosis Asthma Thick corpus callosum Palpebral edema Abnormal pyramidal sign Dysmetria Wide nose Broad nasal tip Generalized myoclonic seizures Memory impairment Intention tremor Thick lower lip vermilion Depressed nasal ridge Infantile muscular hypotonia Brisk reflexes Large forehead Gastroesophageal reflux Abnormal cortical gyration Impaired social interactions Positive Romberg sign Nonprogressive cerebellar ataxia Abnormal social behavior Poor motor coordination Narrow nasal tip Mesiodens Short ear Hippocampal atrophy Hypoplastic hippocampus Autistic behavior Constipation Severe expressive language delay Pachygyria Failure to thrive Hernia Recurrent respiratory infections Respiratory failure Polyhydramnios Small for gestational age High anterior hairline Ambiguous genitalia Congenital diaphragmatic hernia Hypertrichosis Abnormal lung morphology Recurrent urinary tract infections Edema Narrow face Multicystic kidney dysplasia Clitoral hypertrophy Cortical gyral simplification Scaphocephaly Recurrent lower respiratory tract infections Chronic lung disease Pulmonary artery hypoplasia Nystagmus Dysarthria Tremor Short attention span Narrow palate Plagiocephaly Hypoplasia of the corpus callosum Poor suck Gowers sign Multiple joint contractures Prominent occiput Weak cry Fatigable weakness Attention deficit hyperactivity disorder Spasticity Babinski sign Narrow palpebral fissure Pes cavus Thin upper lip vermilion Muscular hypotonia of the trunk Talipes Brachycephaly Thick eyebrow Brain atrophy Hypsarrhythmia Postnatal microcephaly Easy fatigability Frequent falls Decreased muscle mass Cafe-au-lait spot Arrhythmia Abnormality of the pinna Pulmonic stenosis Joint hyperflexibility Abnormality of the skin Mitral valve prolapse Aortic valve stenosis Tricuspid regurgitation Abnormal heart valve morphology Muscle weakness Dental malocclusion Flexion contracture Feeding difficulties Wide nasal bridge Respiratory insufficiency Apnea Respiratory tract infection Arthrogryposis multiplex congenita Falls Generalized muscle weakness Progressive microcephaly Hearing impairment Sandal gap Everted upper lip vermilion Intellectual disability, moderate Low-set, posteriorly rotated ears Smooth philtrum Oral cleft Narrow forehead Laryngomalacia Acne Biparietal narrowing Hypospadias Inguinal hernia Encephalopathy Clinodactyly Microtia Hypermetropia Downturned corners of mouth Thick vermilion border Small hand Short foot Epileptic encephalopathy Cleft lip Abnormality of the dentition Depressed nasal bridge Abnormal dermatoglyphics Short neck Hypertonia Conductive hearing impairment Facial palsy Neurological speech impairment Facial asymmetry Full cheeks Preauricular skin tag Scapular winging Renal hypoplasia/aplasia Cleft palate Atresia of the external auditory canal Preauricular pit Narrow nose Abnormality of the clavicle Abnormality of the antihelix Down-sloping shoulders Lacrimal duct stenosis Unilateral facial palsy Cholesteatoma Segmental myoclonic seizures


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