Depressed nasal bridge, and Gait ataxia
Diseases related with Depressed nasal bridge and Gait ataxia
In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Gait ataxia that can help you solving undiagnosed cases.
Top matches:
High match JABERI-ELAHI SYNDROME; JABELS
JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about JABERI-ELAHI SYNDROME; JABELS
High match ISOLATED ANIRIDIA
Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.
ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an
Related symptoms:
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Microcephaly
SOURCES: OMIM ORPHANET MENDELIAN
More info about ISOLATED ANIRIDIAHigh match TEMTAMY SYNDROME
Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about TEMTAMY SYNDROME
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Other less relevant matches:
High match DPM1-CDG
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.
DPM1-CDG Is also known as cdg1e|cdg syndrome type ie|congenital disorder of glycosylation type 1e|carbohydrate deficient glycoprotein syndrome type ie|cdg-ie|congenital disorder of glycosylation type ie|cdgie|dol-p-mannosyltransferase deficiency|cdg ie
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
SOURCES: MESH ORPHANET OMIM MENDELIAN
More info about DPM1-CDGHigh match PITT-HOPKINS SYNDROME
Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.
PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about PITT-HOPKINS SYNDROMEHigh match X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE
X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.
X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Generalized hypotonia
- Microcephaly
SOURCES: OMIM ORPHANET MENDELIAN
More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPEHigh match ASPARTYLGLUCOSAMINURIA; AGU
Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).
ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about ASPARTYLGLUCOSAMINURIA; AGU
High match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD
Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).
MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
SOURCES: OMIM ORPHANET MENDELIAN
More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADDHigh match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA
Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008).
MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency
Related symptoms:
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Scoliosis
SOURCES: ORPHANET OMIM MENDELIAN
More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSAMedium match JOUBERT SYNDROME 32; JBTS32
JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Ataxia
- Hypertelorism
More info about JOUBERT SYNDROME 32; JBTS32
Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Gait ataxia
| Symptoms // Phenotype | % cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Generalized hypotonia | Very Common - Between 80% and 100% cases |
| Abnormal facial shape | Common - Between 50% and 80% cases |
| Ataxia | Common - Between 50% and 80% cases |
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Other less frequent symptoms
Patients with Depressed nasal bridge and Gait ataxia. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Seizures
Uncommon Symptoms - Between 30% and 50% cases
Hypertelorism
Common Symptoms - More than 50% cases
Cataract
Uncommon Symptoms - Between 30% and 50% cases
Motor delay
Common Symptoms - More than 50% cases
Nystagmus
Uncommon Symptoms - Between 30% and 50% cases
Microcephaly
Common Symptoms - More than 50% cases
Intellectual disability, severe
Uncommon Symptoms - Between 30% and 50% cases
Muscular hypotonia Scoliosis Hearing impairment Strabismus Absent speech Macrocephaly Kyphosis Spasticity Hypoplasia of the corpus callosum Tremor Coarse facial features Short neck Abnormality of the skeletal system Thick lower lip vermilion Intellectual disability, moderate High forehead Growth delay Behavioral abnormality Gait disturbance Hepatomegaly Delayed speech and language development Talipes equinovarus Optic atrophy Myopia Failure to thrive Joint hyperflexibility Mental deterioration Pes planus Intellectual disability, mild Inguinal hernia Ventriculomegaly Frontal bossing Downslanted palpebral fissures Micrognathia Short stature Macroglossia Dysarthria Prominent nose Gliosis Micropenis Feeding difficulties Hyperreflexia Edema Myopathy Splenomegaly Cerebral atrophy Recurrent infections Small hand Progressive neurologic deterioration Widely spaced teeth Neurological speech impairment Wide mouth Abnormality of the pinna Polymicrogyria Cerebellar atrophy Mandibular prognathia Dysmetria Hyperactivity Pain Cryptorchidism Agenesis of corpus callosum Anteverted nares
Rare Symptoms - Less than 30% cases
Kyphoscoliosis Respiratory distress Hepatosplenomegaly Abnormality of the helix Bowing of the legs Relative macrocephaly Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Abnormality of the cerebral white matter Protruding ear Hernia Convex nasal ridge Epicanthus Clinodactyly of the 5th finger Autism Skeletal muscle atrophy Low-set ears Abnormal autonomic nervous system physiology Immunodeficiency Corneal opacity Congestive heart failure Ptosis Telecanthus Hydronephrosis Long philtrum Anxiety Patent ductus arteriosus Highly arched eyebrow Gingival overgrowth Broad-based gait Truncal ataxia Aggressive behavior Pes cavus Psychosis Encephalopathy Visual impairment Fatigue Short philtrum Reduced protein C activity Joint hypermobility Thick eyebrow Flat occiput Intellectual disability, progressive Mutism Decreased liver function Narrow forehead Postnatal microcephaly Dandy-Walker malformation Intention tremor Dental malocclusion Delayed myelination Short palm Severe global developmental delay Pectus carinatum Prominent nasal bridge Apnea Elevated hepatic transaminase EEG abnormality Prominent forehead Elevated serum creatine phosphokinase Abnormality of the dentition Delayed skeletal maturation High palate Renal dysplasia Open bite Oligosacchariduria Spondylolysis Vacuolated lymphocytes Narrow palate Type I diabetes mellitus Spondylolisthesis Amblyopia Dental crowding Microcornea Recurrent respiratory infections Hypopigmentation of the skin Dysostosis multiplex Smooth philtrum Congenital cataract Thickened calvaria Coloboma Cognitive impairment Cardiomyopathy Macrotia Diarrhea Muscle weakness Respiratory tract infection Areflexia Depressivity Microphthalmia Tall stature Visual loss Hypogonadism Brachydactyly Sensorineural hearing impairment Blindness Hypertonia Joint laxity Dyspnea Anorexia Beaking of vertebral bodies Mitral regurgitation Exercise intolerance Involuntary movements Jaundice Macroorchidism Cardiac arrest Wide anterior fontanel Clonus Broad face Arthralgia Scapular winging Weight loss Acidosis Leukodystrophy Hyperlordosis Hyperammonemia Pancreatitis Ventricular fibrillation Pathologic fracture Difficulty climbing stairs Restrictive ventilatory defect Proximal muscle weakness Muscle fibrillation Difficulty walking Myalgia Palpebral edema Spastic tetraparesis Stridor Hemiplegia Back pain Polycystic kidney dysplasia Slurred speech Easy fatigability Poor head control Ragged-red muscle fibers Respiratory failure Left ventricular hypertrophy Abnormality of the ovary Limb muscle weakness Renal cyst Coma Angiofibromas Metabolic acidosis Hepatic steatosis Pulmonary hypoplasia Aspartylglucosaminuria Lactic acidosis Nausea Arrhythmia Tetraplegia Acne Fever Nausea and vomiting Dysphagia Lethargy Respiratory insufficiency Dilated cardiomyopathy Abnormality of the liver Vomiting Muscle cramps Generalized muscle weakness Visceromegaly Angiokeratoma Headache Heterotopia Emotional lability Pachygyria Abnormality of the genital system Facial edema Adenoma sebaceum Hypoplastic frontal sinuses Cranial asymmetry Chronic diarrhea Increased serum lactate Methemoglobinemia Hypoglycemia Hypertrophic cardiomyopathy Tetraparesis Cardiomegaly Hydrops fetalis Aspiration Waddling gait Hoarse voice Aciduria Angiokeratoma corporis diffusum Abnormal cerebellum morphology Glycosuria Increased intracranial pressure Delusions Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Abnormality of the sternum Femoral bowing Neurodevelopmental delay Bowel incontinence Heart murmur Chronic otitis media Prominent supraorbital ridges Recurrent bacterial infections Hydrocele testis Low anterior hairline Spastic gait Hallucinations Limb ataxia Bowing of the long bones Hypertrichosis Depressed nasal ridge Pancytopenia Type II diabetes mellitus Optic disc pallor Large for gestational age Molar tooth sign on MRI Peripheral demyelination Hip dysplasia Impaired smooth pursuit Reduced ejection fraction Decreased antibody level in blood Generalized abnormality of skin Postaxial polydactyly Polydactyly Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Apraxia Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Increased hepatic glycogen content Craniofacial hyperostosis Cerebellar vermis hypoplasia Increased vertebral height Synostosis of joints Oculomotor apraxia Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormal cornea morphology Abnormality of the rib cage Otitis media Progressive cerebellar ataxia Rhabdomyolysis Episodic vomiting Impaired mastication Nonketotic hypoglycemia Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Oliguria Generalized aminoaciduria Respiratory arrest Acute pancreatitis Loss of ability to walk Abnormal corpus callosum morphology Abnormality of the renal tubule Proximal tubulopathy Cataplexy Medulloblastoma Exercise-induced myalgia Hypoketotic hypoglycemia Organic aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Cardiorespiratory arrest Progressive proximal muscle weakness Ketosis Myoglobinuria Drowsiness Fatigable weakness Acute kidney injury Limb tremor Narcolepsy Neurodegeneration Abnormality of blood glucose concentration Retinal degeneration Confusion Genu valgum Abnormality of the foot Hypermetropia Broad forehead Arthritis Umbilical hernia Skeletal dysplasia Osteopenia Babinski sign Midface retrusion Malar flattening Hydrocephalus Electron transfer flavoprotein-ubiquinone oxidoreductase defect Gastrointestinal inflammation Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Elevated plasma acylcarnitine levels Ketotic hypoglycemia Increased muscle lipid content Glutaric acidemia Overgrowth Arthralgia of the hip Renal cortical cysts Square face Neuronal loss in central nervous system Progressive visual loss Neurogenic bladder Congenital nystagmus Unilateral renal agenesis Chorioretinal coloboma Aortic aneurysm Genu varum Aortic regurgitation Short chin Short toe Intellectual disability, profound Bilateral sensorineural hearing impairment Renal agenesis Profound global developmental delay Esotropia Iris coloboma Long face Facial asymmetry Dolichocephaly Hip dislocation Abnormal heart morphology Dilatation Atrial septal defect Ventricular septal defect Increased proinsulin:insulin ratio Hypoplasia of the antihelix Hypoplasia of teeth Colpocephaly Lumbar kyphosis Nail dysplasia Weak cry Lower limb hyperreflexia Increased variability in muscle fiber diameter Trigonocephaly Poor suck Abnormality of vision Hemangioma Venous thrombosis Knee flexion contracture Cerebral visual impairment Telangiectasia Febrile seizures High, narrow palate Short upper lip Muscular dystrophy Abnormal pyramidal sign Retinopathy Camptodactyly Abnormality of the eye Hypertension Flexion contracture Posterior staphyloma Short 2nd toe Scleral staphyloma Lop ear Lens luxation Aplasia/Hypoplasia of the macula Aphakia Upper limb undergrowth Sparse eyebrow Retinal detachment Falls Arachnodactyly Attention deficit hyperactivity disorder Muscular hypotonia of the trunk Rigidity Hypothyroidism Reduced visual acuity Glaucoma Diabetes mellitus Neoplasm Hand clenching Brittle hair Recurrent urinary tract infections Sparse eyelashes Choreoathetosis Fine hair Generalized-onset seizure Inability to walk Talipes Distal muscle weakness Joint stiffness Cerebellar hypoplasia Hyporeflexia Short nose Dystonia Choanal atresia Exotropia Central adrenal insufficiency Hypoplasia of the fovea Vascular tortuosity Macular hypoplasia Retinal vascular tortuosity Central hypothyroidism Lower limb hypertonia Abnormal glucose tolerance Ocular pain Decreased light- and dark-adapted electroretinogram amplitude Peters anomaly Hyposmia Ectopia pupillae Action tremor Hand tremor Opacification of the corneal stroma Hypoplasia of the iris Limb hypertonia Aniridia Hypopituitarism Adrenal insufficiency Albinism Anophthalmia Nephroblastoma Ectopia lentis Bilateral ptosis Anosmia Optic nerve hypoplasia Ankle contracture Deep venous thrombosis Generalized myoclonic seizures Memory impairment Large hands Cubitus valgus Cachexia Acanthosis nigricans Sandal gap Narrow palpebral fissure Gynecomastia Short thumb Interphalangeal joint contracture of finger Hypoplasia of penis Decreased testicular size Short foot Cortical gyral simplification Bulbous nose Delayed puberty Toe syndactyly Synophrys Camptodactyly of finger Blepharophimosis Hyperhidrosis Hypospadias Obesity Intrauterine growth retardation Overhanging nasal tip Triangular nasal tip Cortical dysplasia Truncal obesity Intermittent hyperventilation Mood swings Ascites Neutropenia Wide nose Platyspondyly Nyctalopia Erythema Developmental regression Brachycephaly Myoclonus Abnormality of metabolism/homeostasis Abnormality of toe Moderately short stature Small earlobe Abnormality of the musculature Abnormality of earlobe Abdominal obesity Panhypopituitarism Tics Abnormal hair pattern Distal lower limb amyotrophy Down-sloping shoulders Scaphocephaly Restlessness Striae distensae Biparietal narrowing Cerebellar vermis atrophy Broad fingertip Narrow foot Prolonged partial thromboplastin time Deeply set eye Cyanosis Specific learning disability Wide intermamillary distance Full cheeks Abdominal distention Sleep disturbance Single transverse palmar crease Tapered finger Thick vermilion border Astigmatism Autistic behavior Postnatal growth retardation Gastroesophageal reflux Aganglionic megacolon Upslanted palpebral fissure Pneumonia Constipation Clinodactyly Wide nasal bridge Reduced protein S activity Reduced antithrombin III activity Abnormal macular morphology Hypoglycosylation of alpha-dystroglycan Pontocerebellar atrophy Type I transferrin isoform profile Abnormal myelination Open mouth Finger clinodactyly Failure of eruption of permanent teeth Hiatus hernia Small cerebral cortex Large beaked nose Happy demeanor Pes valgus Abnormal pattern of respiration Thickened helices Breathing dysregulation Clubbing of fingers Echolalia Misalignment of teeth Esophagitis Acrocyanosis Hyperventilation Sleep apnea Hodgkin lymphoma Dysphasia Aphasia Supernumerary nipple Overlapping toe Cupped ear Clubbing Self-injurious behavior Short metatarsal Incoordination Coarse hair Hypopigmented skin patches Elongated superior cerebellar peduncle
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