Macrocephaly, and Protruding ear

Diseases related with Macrocephaly and Protruding ear

In the following list you will find some of the most common rare diseases related to Macrocephaly and Protruding ear that can help you solving undiagnosed cases.

Top matches:

MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

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

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Other less relevant matches:

Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.

AURICULOCONDYLAR SYNDROME Is also known as question mark ear syndrome|question mark ears syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME

Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Spasticity
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL LAMBDOID SYNOSTOSIS

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

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

D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

D-2-HYDROXYGLUTARIC ACIDURIA Is also known as d-2-hga|d-2-hydroxyglutaric acidemia|d2hga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA

Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

Top 5 symptoms//phenotypes associated to Macrocephaly and Protruding ear

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Frontal bossing Common - Between 50% and 80% cases
Prominent forehead Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Macrocephaly and Protruding ear. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Hypertelorism Seizures Abnormal facial shape Strabismus Anteverted nares Low-set ears Delayed speech and language development Feeding difficulties Inguinal hernia Hydrocephalus Cerebral cortical atrophy Microcephaly Midface retrusion Broad forehead Sensorineural hearing impairment Deeply set eye Downslanted palpebral fissures Hyperactivity Pointed chin Intellectual disability, mild Macrotia Long face

Rare Symptoms - Less than 30% cases

Micrognathia External ear malformation Aggressive behavior Spasticity Respiratory distress Flat occiput Aortic regurgitation Mandibular prognathia Gait ataxia Malar flattening Cerebellar hypoplasia Hearing impairment Narrow mouth Talipes equinovarus Prominent nose Ventriculomegaly Hernia Round face Apnea Facial asymmetry Scoliosis Dental malocclusion Coarse facial features High palate Constipation Broad nasal tip Tall stature Epicanthus Abnormality of the pinna Wide nasal bridge Short nose Neonatal hypotonia Autistic behavior Thick vermilion border Abnormal heart morphology Cryptorchidism Pes planus Triangular face Brisk reflexes Cupped ear Large forehead Encephalopathy Vomiting Behavioral abnormality Abnormal pyramidal sign Cerebral atrophy Abnormal cortical gyration Myoclonus Brachycephaly Skeletal dysplasia Irritability Dolichocephaly Lethargy Flat face Aciduria Focal-onset seizure Epileptic encephalopathy Hypsarrhythmia Involuntary movements Cerebral visual impairment Absence seizures Blindness Muscle weakness Cardiomyopathy Generalized myoclonic seizures Palpebral edema Impaired social interactions Infantile muscular hypotonia Depressed nasal ridge Positive Romberg sign Thick lower lip vermilion Intention tremor Memory impairment Nonprogressive cerebellar ataxia Abnormal social behavior Poor motor coordination Respiratory insufficiency Narrow nasal tip Mesiodens Short ear Hippocampal atrophy Wide nose Bulbous nose Hypoplastic hippocampus Segmental myoclonic seizures Unsteady gait Visual impairment Dysmetria Severe muscular hypotonia Coloboma Shock Corneal opacity Large for gestational age Enlarged kidney Long foot Varicose veins Retinal coloboma Long hallux Renal malrotation Bifid ureter Growth delay Cataract Intrauterine growth retardation Autism Osteopenia Postnatal growth retardation Hip dislocation Large hands Congenital cataract Oligohydramnios Thin skin Wormian bones Spontaneous abortion Cutis laxa Adducted thumb Unilateral renal agenesis Delayed cranial suture closure Reduced subcutaneous adipose tissue Spinal canal stenosis Premature skin wrinkling Calcaneovalgus deformity Dermal translucency Bowing of the legs Nephroblastoma Focal impaired awareness seizure Subependymal cysts Stridor Turricephaly Increased CSF protein Dilation of lateral ventricles Delayed CNS myelination Periventricular leukomalacia Episodic vomiting Generalized tonic seizures Inspiratory stridor Narrow naris Anteverted ears Infantile encephalopathy Glutaric aciduria Cardiogenic shock D-2-hydroxyglutaric aciduria Spina bifida occulta Renal cyst Spina bifida Renal dysplasia Mitral valve prolapse Overgrowth Intestinal malrotation Macroglossia Neutropenia Multifocal cerebral white matter abnormalities Astigmatism Talipes Long philtrum Ventricular septal defect Abnormality of the skeletal system Neoplasm Gastroesophageal reflux Hyperreflexia Cerebellar atrophy Bifid uvula Parietal bossing Semilobar holoprosencephaly Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Cleft palate Ptosis Posteriorly rotated ears Low-set, posteriorly rotated ears Full cheeks Dental crowding Single median maxillary incisor Preauricular skin tag Abnormality of the outer ear Atresia of the external auditory canal Facial cleft Glossoptosis Ankylosis Obstructive sleep apnea Microglossia Stenosis of the external auditory canal Impaired mastication Hamartoma of tongue Snoring Difficulty in tongue movements Midline defect of the nose Median cleft lip and palate Overfolding of the superior helices Cleft lip Kyphosis Pectus excavatum Failure to thrive Relative macrocephaly Anteriorly placed anus Frontal upsweep of hair Underdeveloped superior crus of antihelix Brachydactyly Microphthalmia Agenesis of corpus callosum Upslanted palpebral fissure Thin upper lip vermilion Smooth philtrum Bilateral microphthalmos Oral cleft Iris coloboma Highly arched eyebrow Hypotelorism Omphalocele Holoprosencephaly Partial agenesis of the corpus callosum Median cleft lip Bilateral cleft lip Depressed nasal tip Bilateral cleft lip and palate Broad face Panhypopituitarism Speech articulation difficulties Anterior open-bite malocclusion Edema Neurodegeneration Prominent scalp veins Round ear Diminished ability to concentrate Pansynostosis Posterior plagiocephaly Flexion contracture Motor delay Intellectual disability, severe Dementia High forehead Difficulty walking Wide mouth Dandy-Walker malformation Craniofacial dysostosis Cerebral calcification Choreoathetosis Narrow face Self-injurious behavior Aplasia/Hypoplasia of the cerebellum Basal ganglia calcification High-frequency hearing impairment Abnormality of the basal ganglia Short stature Ataxia Nystagmus Dysarthria Tremor Ectopic posterior pituitary Lambdoidal craniosynostosis Hypoplastic superior helix Hypertonia Question mark ear Mandibular condyle hypoplasia Abnormality of the temporomandibular joint Hypoplasia of first ribs Mandibular condyle aplasia Periauricular skin pits Aplasia/Hypoplasia of the external ear Vein of Galen aneurysmal malformation Cleft at the superior portion of the pinna Cleft helix Abnormality of the crus of the helix Postauricular skin tag Depressed nasal bridge Proptosis Dimple chin Retrognathia Telecanthus Craniosynostosis Blepharophimosis Downturned corners of mouth Small hand Microretrognathia Plagiocephaly Increased intracranial pressure Optic nerve hypoplasia Arnold-Chiari type I malformation Anterior plagiocephaly Stomatocytosis Small foramen magnum


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