Abnormal facial shape, and Vertigo

Diseases related with Abnormal facial shape and Vertigo

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Vertigo that can help you solving undiagnosed cases.


Top matches:

Medium match EPISODIC ATAXIA TYPE 1


Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.

EPISODIC ATAXIA TYPE 1 Is also known as episodic ataxia with myokymia

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Motor delay
  • Dysarthria
  • Respiratory distress


SOURCES: ORPHANET MENDELIAN

More info about EPISODIC ATAXIA TYPE 1

Medium match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cognitive impairment
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2

Medium match XFE PROGEROID SYNDROME; XFEPS


XFE PROGEROID SYNDROME; XFEPS Is also known as xpf-ercc1 progeroid syndrome

Related symptoms:

  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Neoplasm


SOURCES: MESH OMIM MENDELIAN

More info about XFE PROGEROID SYNDROME; XFEPS

Mendelian

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

Learn more

Other less relevant matches:

Medium match AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY


Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by Jimenez-Escrig et al., 2012).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as edmd3

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY

Low match SCHINDLER DISEASE, TYPE I


Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (OMIM ), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).

SCHINDLER DISEASE, TYPE I Is also known as neuroaxonal dystrophy, schindler type|naga deficiency, type i|alpha-n-acetylgalactosaminidase deficiency, type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHINDLER DISEASE, TYPE I

Low match FRIEDREICH ATAXIA


Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Low match GLUTARYL-COA DEHYDROGENASE DEFICIENCY


Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i|glutaric aciduria i|gcdhd|ga1|glutaryl-coenzyme a dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia type 1|glutaryl-coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

Low match CAMURATI-ENGELMANN DISEASE


Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

CAMURATI-ENGELMANN DISEASE Is also known as diaphyseal dysplasia 1, progressive|engelmann disease|progressive diaphyseal dysplasia|dpd1|ced|pdd

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CAMURATI-ENGELMANN DISEASE

Low match MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7


Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Low match ARTERIAL TORTUOSITY SYNDROME; ATS


ARTERIAL TORTUOSITY SYNDROME; ATS Is also known as arterial tortuosity

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME; ATS

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Vertigo

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Kyphosis Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Abnormal facial shape and Vertigo. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Muscle weakness Optic atrophy Intellectual disability Muscular hypotonia Flexion contracture Gait disturbance Diplopia Hypertrophic cardiomyopathy Headache Generalized hypotonia Spasticity Hepatomegaly Respiratory distress Dilatation Hypertension Macrocephaly Cardiomyopathy Fatigue Seizures Cachexia Lumbar hyperlordosis Skeletal dysplasia Ptosis Arrhythmia Coarse facial features Hyperlordosis Abnormality of the cerebral white matter Global developmental delay Motor delay Intellectual disability, mild Kyphoscoliosis Peripheral neuropathy

Rare Symptoms - Less than 30% cases


Splenomegaly Abnormality of the nervous system Hyperactive deep tendon reflexes Easy fatigability Generalized amyotrophy Reduced tendon reflexes Blurred vision Genu valgum Delayed puberty Hernia Atrial fibrillation Choreoathetosis Waddling gait Hepatosplenomegaly Skeletal muscle atrophy Mandibular prognathia Nystagmus Limb muscle weakness Dilated cardiomyopathy Muscular dystrophy Clumsiness Proximal muscle weakness Muscle stiffness Pectus excavatum Myotonia Myopathy Lower limb muscle weakness Inguinal hernia Ventricular hypertrophy Abnormality of eye movement Hyperactivity Umbilical hernia Dystonia Pes planus Cerebellar atrophy Talipes equinovarus Dysphagia Hypertonia Pain Difficulty walking Pectus carinatum Pallor Abnormality of movement Micrognathia Recurrent pneumonia Hypertelorism Tetraplegia Inability to walk Sensory neuropathy Developmental regression Neurodegeneration Hyperhidrosis Osteopenia Abnormal cerebellum morphology Cerebral cortical atrophy Blindness Poor coordination Palpitations Tinnitus Ascites Angiokeratoma corporis diffusum Angiokeratoma Increased urinary O-linked sialopeptides Feeding difficulties in infancy Visual impairment Dysarthria Ventriculomegaly Opacification of the corneal stroma Vomiting Severe short stature Lymphedema Cataract Carious teeth Telangiectasia Edema Neurological speech impairment Dry skin Respiratory tract infection Peripheral axonal neuropathy Thick vermilion border Anemia Paralysis Cardiomegaly Stroke Diaphyseal dysplasia Cortical thickening of long bone diaphyses Lower limb pain Sclerosis of skull base Cranial hyperostosis Abnormal subcutaneous fat tissue distribution Abnormality of the radius Cortical sclerosis Limb pain Intracranial hemorrhage Diaphyseal sclerosis Cranial nerve compression Optic nerve compression Craniofacial osteosclerosis Ketonemia Elevated aldolase level Short neck Dehydration Recurrent infections Abnormality of extrapyramidal motor function Short nose Large fontanelles Exercise intolerance Hydrocephalus Joint dislocation Hemiplegia Abnormality of the skeletal system Epicanthus Short stature Urinary retention Cerebral palsy Leukoencephalopathy Hyperkinesis Encephalitis Abnormal diaphysis morphology Abnormality of tibia morphology Abnormality of the humerus Dilation of lateral ventricles Malnutrition Opisthotonus Facial palsy Bulbar palsy Malignant hyperthermia Generalized dystonia Ketonuria Cerebral ischemia Abnormality of the retinal vasculature Proptosis Decreased plasma carnitine Limitation of joint mobility Glaucoma Fasting hypoglycemia Acute encephalopathy Hypogonadism Infantile encephalopathy Retinal hemorrhage Glutaric aciduria Glutaric acidemia Macrocephaly at birth Symmetrical progressive peripheral demyelination Frontal bossing Delayed eruption of teeth Anorexia Otosclerosis Aplasia/Hypoplasia of the radius Extramedullary hematopoiesis Abnormality of femur morphology Subdural hemorrhage Slender build Facial paralysis Abnormality of the ulna Raynaud phenomenon Gangrene Spastic diplegia Abnormality of the skull Poor appetite Abnormality of the vertebral column Bone pain Metaphyseal dysplasia Elevated erythrocyte sedimentation rate Reduced subcutaneous adipose tissue Hyperostosis Abnormality of pelvic girdle bone morphology Increased intracranial pressure Leukopenia Coxa valga Vasculitis Bone marrow hypocellularity Increased bone mineral density Female hypogonadism Broad-based gait Dyspnea Generalized arterial tortuosity Ischemic stroke Cutis laxa Decreased fertility in males Aortic regurgitation Short chin Hypogonadotrophic hypogonadism Increased body weight Aortic valve stenosis Gynecomastia Cranial nerve VI palsy Fourth cranial nerve palsy Soft, doughy skin Thin skin Hyperinsulinemia Congenital diaphragmatic hernia Amenorrhea Progressive visual loss Convex nasal ridge Hypotension Bruising susceptibility Long face Arachnodactyly Pulmonic stenosis Scarring Blepharophimosis Joint laxity Hyperextensible skin Heart murmur Respiratory failure Pituitary hypothyroidism Sudden loss of visual acuity Decreased circulating ACTH level Decreased female libido Arterial tortuosity Decreased fertility in females Secondary growth hormone deficiency Galactorrhea Oculomotor nerve palsy Rectal prolapse Abnormal thrombosis Bladder diverticulum Adrenocorticotropic hormone deficiency Male hypogonadism Hyperglycemia Hiatus hernia Soft skin Pulmonary artery stenosis Growth hormone excess Tracheomalacia Aortic root aneurysm Adrenocorticotropin deficient adrenal insufficiency Bitemporal hemianopia Keratoconus Atrophic scars Impotence Epiphora Macrotia Osteoporosis Polyhydramnios Hypertrichosis Internal ophthalmoplegia Spondyloepiphyseal dysplasia Telangiectases of the cheeks Pleural effusion Abnormality of hair density Pterygium Recurrent upper respiratory tract infections Widely spaced teeth Cardiac arrest Hydrops fetalis Gingival overgrowth Dyspareunia Spastic tetraplegia Curved fingers Hip dysplasia Webbed neck Macroglossia Hirsutism Thick eyebrow Facial asymmetry Poor speech Platyspondyly Corneal opacity Postnatal growth retardation Intellectual disability, moderate Muscular hypotonia of the trunk Aciduria Metatarsus adductus Long philtrum Thoracic kyphoscoliosis Downslanted palpebral fissures High palate Anterior beaking of lower thoracic vertebrae Proximal tapering of metacarpals Decreased pulmonary function Anterior beaking of lumbar vertebrae Dermatan sulfate excretion in urine Pseudoarthrosis Snoring Heparan sulfate excretion in urine Narrow greater sacrosciatic notches J-shaped sella turcica Prominent sternum Mild short stature Acetabular dysplasia Thoracolumbar kyphosis Pulmonary insufficiency Recurrent ear infections Broad ribs Nonimmune hydrops fetalis Dysostosis multiplex Thoracolumbar scoliosis Spinal cord compression Thoracic kyphosis Hypoplasia of the odontoid process Abnormal heart valve morphology Neuronal loss in central nervous system Poor fine motor coordination Migraine Rimmed vacuoles Pelvic girdle muscle weakness Proximal muscle weakness in lower limbs Hyporeflexia of lower limbs Increased connective tissue Decreased HDL cholesterol concentration Achilles tendon contracture Limb-girdle muscle weakness Shoulder girdle muscle weakness Progeroid facial appearance Ankle contracture Sprengel anomaly Spinal rigidity Increased LDL cholesterol concentration Restrictive ventilatory defect Toe walking Congenital muscular dystrophy Limb-girdle muscular dystrophy Lipodystrophy Back pain Atrioventricular block EMG: myopathic abnormalities Scapular winging Elbow flexion contracture Abnormal lung morphology Supraventricular arrhythmia Shoulder girdle muscle atrophy Sudden cardiac death Intellectual disability, severe Cerebral visual impairment Generalized-onset seizure Generalized myoclonic seizures Congenital cataract Severe global developmental delay Apnea Gastroesophageal reflux Autism Myoclonus Cerebellar hypoplasia Constipation Hyperreflexia Proximal lower limb amyotrophy Strabismus Restricted neck movement due to contractures Decreased cervical spine flexion due to contractures of posterior cervical muscles Absent muscle fiber emerin Pelvic girdle muscle atrophy Type 1 muscle fiber atrophy Proximal upper limb amyotrophy Ventricular escape rhythm Permanent atrial fibrillation Limb-girdle muscle atrophy Proximal muscle weakness in upper limbs Hypertriglyceridemia Ichthyosis Vegetative state Hyperkeratosis Telangiectasia of the skin Axonal degeneration Aminoaciduria Subcutaneous nodule Thick lower lip vermilion Bilateral sensorineural hearing impairment Polyneuropathy Distal sensory impairment Papule Distal muscle weakness Abnormality of the eye Cerebral atrophy Motor polyneuropathy Depressed nasal bridge Sensorineural hearing impairment Craniofacial disproportion Tip-toe gait Hand clenching Myokymia Calf muscle hypertrophy Specific learning disability Muscle cramps Postural instability Nausea Abnormality of the periventricular white matter Progressive distal muscle weakness Paresthesia Hypoplasia of dental enamel Joint stiffness Elevated serum creatine phosphokinase Obesity Lack of subcutaneous fatty tissue Bird-like facies Absence of subcutaneous fat Prematurely aged appearance High pitched voice Prominent supraorbital ridges Neoplasm of the skin Narrow face Cutaneous photosensitivity Lip telangiectasia Proteinuria Elevated hepatic transaminase Deeply set eye Weight loss Pneumonia Renal insufficiency Neoplasm Microcephaly Telangiectasia of the oral mucosa White mater abnormalities in the posterior periventricular region Distal sensory impairment of all modalities Clonus Psychomotor deterioration Delayed myelination Abnormal saccadic eye movements Hemifacial hypertrophy Abnormality of the autonomic nervous system Incomprehensible speech Upper limb amyotrophy Cerebellar cortical atrophy Concentric hypertrophic cardiomyopathy Diabetic ketoacidosis Decreased sensory nerve conduction velocity Reduced systolic function Hand muscle atrophy Sinus tachycardia Abnormality of cardiovascular system physiology Muscular subvalvular aortic stenosis Positive Romberg sign Lower limb amyotrophy Abnormal echocardiogram Delayed speech and language development T-wave inversion Subvalvular aortic stenosis Asymmetric septal hypertrophy Impaired proprioception Gait imbalance Spinocerebellar tract degeneration Hyposmia Decreased amplitude of sensory action potentials Cervical spinal cord atrophy Myocardial fibrosis Tremor Gliosis Coma Metabolic acidosis Dyskinesia Irritability Rigidity Hypoglycemia Acidosis Prominent forehead Dementia Encephalopathy Fever Mitochondrial malic enzyme reduced Feeding difficulties Failure to thrive Atrophic superior cerebellar peduncle Impaired visually enhanced vestibulo-ocular reflex Structural foot deformity Abolished vibration sense Spinal cord posterior columns myelin loss Palmar hyperhidrosis Temporal optic disc pallor Abnormality of the dentate nucleus Decreased pyruvate carboxylase activity Areflexia of lower limbs Increased reactive oxygen species production Diffuse white matter abnormalities Reduced visual acuity Peripheral demyelination Sensory impairment Chorea Chest pain Progressive cerebellar ataxia Falls Tachycardia Unsteady gait Dysmetria Abnormality of the foot Abnormal pyramidal sign Gait ataxia Intention tremor Diabetes mellitus Pes cavus Babinski sign Areflexia Visual loss Depressivity Congestive heart failure Oligosacchariduria Long-tract signs Progressive psychomotor deterioration Vascular skin abnormality Optic disc pallor Involuntary movements Ketoacidosis Hammertoe Urinary bladder sphincter dysfunction Ketosis Heart block Abnormality of visual evoked potentials Abnormal EKG Thoracic scoliosis Optic neuropathy Visual field defect Glucose intolerance Decreased motor nerve conduction velocity Sensory axonal neuropathy Impaired vibratory sensation Left ventricular hypertrophy Dysdiadochokinesis Incoordination Slurred speech Ventricular arrhythmia Spastic paraparesis Paraparesis Truncal ataxia Insulin resistance Spastic gait Limb ataxia Lower limb spasticity Aortic tortuosity



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Hypopigmentation of the skin, related diseases and genetic alterations Downslanted palpebral fissures and Facial asymmetry, related diseases and genetic alterations Wide nasal bridge and High, narrow palate, related diseases and genetic alterations Low-set ears and Omphalocele, related diseases and genetic alterations Hypertelorism and Obesity, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more