Depressed nasal bridge, and Difficulty walking

Diseases related with Depressed nasal bridge and Difficulty walking

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Difficulty walking that can help you solving undiagnosed cases.


Top matches:

High match MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D


The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

High match VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A


Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets.VDDR2B (OMIM ) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction.For a general phenotypic description and discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A ).

VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A Is also known as generalized resistance to 1,25-dihydroxyvitamin d|rickets-alopecia syndrome|vitamin d-dependent rickets, type 2a, with or without alopecia|vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol|hypocalcemic vitamin d-

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A

High match COHEN-GIBSON SYNDROME; COGIS


Cohen-Gibson syndrome is an overgrowth disorder characterized by increased somatic parameters apparent from birth and associated with variable intellectual disability. Affected individuals have dysmorphic facial features, advanced bone age, and skeletal abnormalities, including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, and often scoliosis or cervical spine anomalies. Other features may include hypotonia, difficulty walking due to skeletal anomalies, and umbilical hernia (summary by Cooney et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COHEN-GIBSON SYNDROME; COGIS

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Other less relevant matches:

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A


De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219100}. Genetic Heterogeneity of de Barsy SyndromeAlso see ARCL3B (OMIM ), caused by mutation in the PYCR1 gene (OMIM ) on chromosome 17q25.

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A Is also known as de barsy syndrome a|cutis laxa, corneal clouding, and mental retardation|progeroid syndrome of de barsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A

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; MADD

High match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY


Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

High match ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT


Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

High match AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B


Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B Is also known as lgmd1b|limb-girdle muscular dystrophy due to lamin a/c deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B

High match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR


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

High match SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA


Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Difficulty walking

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Difficulty walking. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Muscular hypotonia Abnormal facial shape Respiratory insufficiency High palate Short stature Wide nasal bridge Feeding difficulties Motor delay Muscle weakness Absent speech Low-set ears Frontal bossing Prominent forehead Abnormality of the skeletal system Hearing impairment Ataxia Hypertelorism Cataract Delayed speech and language development Myopia Macrocephaly High forehead Gait disturbance Macrotia Hypoplasia of the corpus callosum Hyperlordosis Joint laxity Arachnodactyly Dysarthria Pes planus Strabismus Spasticity Hepatomegaly Talipes equinovarus Midface retrusion Elevated serum creatine phosphokinase Downslanted palpebral fissures Waddling gait Growth delay Left ventricular hypertrophy Failure to thrive

Rare Symptoms - Less than 30% cases


Camptodactyly Large hands Hyperammonemia Neonatal hypotonia Tall stature Overgrowth Neurodevelopmental delay Bulbous nose Poor speech Prominent nasal bridge Mandibular prognathia Long nose Tetraplegia Deeply set eye Behavioral abnormality Umbilical hernia Patent ductus arteriosus Depressivity Hernia Atrial septal defect Respiratory distress Drooling Exercise intolerance Long fingers Long foot Elbow flexion contracture Vomiting Peripheral axonal neuropathy Respiratory failure Ventricular hypertrophy Thin upper lip vermilion Posteriorly rotated ears Thin vermilion border Coarse facial features Malar flattening Kyphosis Cardiomegaly Wide anterior fontanel Cognitive impairment Tremor Skeletal muscle atrophy Hyperreflexia Wide mouth Thick eyebrow Microcephaly Distal amyotrophy Triangular face Dysphagia Lactic acidosis Jaundice Myopathy Cerebral cortical atrophy Gait ataxia Poor head control Hypoglycemia Elevated hepatic transaminase Proximal muscle weakness Difficulty climbing stairs Generalized aminoaciduria Arrhythmia Areflexia Cardiomyopathy Dilated cardiomyopathy Cryptorchidism Diarrhea Cerebellar atrophy Epicanthus Ventriculomegaly Anteverted nares Fatigable weakness of neck muscles Ketosis Reye syndrome-like episodes Ethylmalonic aciduria Abnormality of branched chain family amino acid metabolism Defective dehydrogenation of isovaleryl CoA and butyryl CoA Myoglobinuria Hypersarcosinemia Drowsiness Decreased liver function Fatigable weakness of distal limb muscles Acute pancreatitis Anorexia Electron transfer flavoprotein-ubiquinone oxidoreductase defect Polycystic kidney dysplasia Back pain Hepatosplenomegaly Immunodeficiency Intellectual disability, mild Abnormality of blood glucose concentration Hemiplegia Fatigable weakness Stridor Ventricular fibrillation Restrictive ventilatory defect Glycosuria Rhabdomyolysis Reduced protein C activity Acute kidney injury Hepatic periportal necrosis Increased muscle lipid content Elevated plasma acylcarnitine levels Abnormality of the renal tubule Exercise-induced myalgia Medulloblastoma Proximal tubulopathy Glutaric aciduria Oliguria Clonus Episodic vomiting Abnormal corpus callosum morphology Organic aciduria Respiratory arrest Cardiac arrest Mutism Loss of ability to walk Type I diabetes mellitus Ragged-red muscle fibers Scapular winging Pancreatitis Hypoketotic hypoglycemia Chronic fatigue Ketotic hypoglycemia Renal cortical cysts Spastic tetraparesis Progressive proximal muscle weakness Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Cardiorespiratory arrest Cataplexy Limb tremor Progressive spastic quadriplegia Ketonuria Excessive daytime somnolence Impaired mastication Nonketotic hypoglycemia Hypoglycemic coma Easy fatigability Leukodystrophy Personality disorder Slurred speech Unsteady gait Broad nasal tip High myopia Thick corpus callosum Long neck Expressive language delay Metopic synostosis Slender build Communicating hydrocephalus Megalencephaly Disproportionate tall stature Sparse eyebrow Lumbar hyperlordosis Abnormal cerebellum morphology Nystagmus Long face Kyphoscoliosis Proptosis Upslanted palpebral fissure Cerebellar hypoplasia Hydrocephalus Abnormal muscle fiber lamin A/C Pelvic girdle amyotrophy Fatiguable weakness of proximal limb muscles Paroxysmal supraventricular tachycardia Severe expressive language delay Intellectual disability, severe Proximal muscle weakness in upper limbs Decreased muscle mass Shyness Everted upper lip vermilion Acetabular dysplasia Spastic dysarthria Generalized joint laxity Facial hypotonia Genu recurvatum Overweight Abnormality of the periventricular white matter Progressive spastic paraplegia Pointed chin Hypertonia Narrow face Stereotypy Amblyopia Spastic tetraplegia Narrow forehead Talipes Paraplegia Spastic paraplegia Short philtrum Babinski sign Dystonia Limb-girdle muscle atrophy Proximal lower limb amyotrophy Full cheeks Dysmetria Myopathic facies Sensory axonal neuropathy Impaired vibratory sensation Sandal gap Joint contracture of the hand Broad-based gait Hip dysplasia Sensory neuropathy Inability to walk Heterotopia Abnormality of the foot Delayed ability to walk Arthrogryposis multiplex congenita Distal muscle weakness Peripheral neuropathy Increased hepatic glycogen content Sinus tachycardia Increased muscle fatiguability Abnormality of lipid metabolism Hyperlipidemia Hepatic fibrosis Hypertriglyceridemia Narrow nasal bridge Distal arthrogryposis Sick sinus syndrome Limb-girdle muscular dystrophy Atrial arrhythmia Abnormal echocardiogram Abnormal atrioventricular conduction Pelvic girdle muscle weakness Achilles tendon contracture Limb-girdle muscle weakness Ankle contracture Difficulty running Exertional dyspnea Calf muscle hypertrophy Lipodystrophy Impaired proprioception Atrioventricular block EMG: myopathic abnormalities Ventricular tachycardia Knee flexion contracture Bradycardia Atrial fibrillation Syncope Sudden cardiac death Muscular dystrophy Impaired tactile sensation Sensory ataxia Renal dysplasia Encephalopathy Pachygyria Increased serum 1,25-dihydroxyvitamin D3 Broad forehead Retrognathia Osteopenia Long philtrum Ptosis Cleft palate Subperiosteal bone resorption Bulging of the costochondral junction Deformed rib cage Secondary hyperparathyroidism Bifid uvula Sparse bone trabeculae Enlargement of the ankles Bulging epiphyses Abdominal wall muscle weakness Enlargement of the wrists Widely patent fontanelles and sutures Fibular bowing Hypocalcemic seizures Difficulty standing Astigmatism Nevus Alopecia totalis Tracheomalacia Thin nail Broad face Hypoplastic iliac wing Capillary hemangioma Spinal cord compression Patellar dislocation Broad neck Poor coordination Enlarged kidney Slender finger Round face Melanocytic nevus Metaphyseal widening Hemangioma Accelerated skeletal maturation Coxa valga Exotropia Broad thumb Mitral regurgitation Small nail Wide intermamillary distance Alopecia universalis Thin bony cortex Hyperopic astigmatism Coarse hair Sensorineural hearing impairment Splenomegaly Cellular metachromasia Ovoid thoracolumbar vertebrae Thickened ribs Heparan sulfate excretion in urine Asymmetric septal hypertrophy Dysostosis multiplex Growth abnormality Recurrent upper respiratory tract infections Alopecia Progressive hearing impairment Chronic diarrhea Hypertrichosis Thick lower lip vermilion Sleep disturbance Hirsutism Synophrys Joint stiffness Aggressive behavior Short neck Irritability Elevated circulating parathyroid hormone level Flat occiput Delayed epiphyseal ossification Premature loss of teeth Protuberant abdomen Osteomalacia Hyperparathyroidism Tibial bowing Femoral bowing Hypophosphatemia Bowing of the legs Metaphyseal irregularity Papule Rickets Elevated alkaline phosphatase Aminoaciduria Hypocalcemia Bone pain Hypoplasia of dental enamel Abnormality of the skin Recurrent fractures Delayed eruption of teeth Carious teeth Long ear Hamstring contractures Abnormality of the genital system Pain Acidosis Dyspnea Weight loss Hyperactivity Headache Congestive heart failure Edema Fatigue Fever Prominent superficial blood vessels Myalgia Hypoargininemia Polar cataract Corneal arcus Wide cranial sutures Dermal translucency Calcaneovalgus deformity Narrow nasal ridge Excessive wrinkled skin Overlapping fingers Arthralgia Telecanthus Progeroid facial appearance Hepatic steatosis Tetraparesis Aciduria Increased serum lactate Gliosis Generalized muscle weakness Muscle cramps Renal cyst Coma Metabolic acidosis Pulmonary hypoplasia Hypertrophic cardiomyopathy Nausea Joint hyperflexibility Limb muscle weakness Nausea and vomiting Congenital cataract Abnormality of the cerebral white matter Lethargy Abnormality of the liver Respiratory tract infection Abnormality of the pinna Premature skin wrinkling Severe failure to thrive Narrow foot Osteoporosis Hip dislocation Corneal opacity Blepharophimosis Scarring Sparse hair Protruding ear Postnatal growth retardation Narrow mouth Brachycephaly Severe short stature Joint hypermobility Agenesis of corpus callosum Delayed skeletal maturation Inguinal hernia Visual loss Pectus excavatum Ventricular septal defect Intrauterine growth retardation Micrognathia Spinal instability Abnormality of skin pigmentation Underdeveloped nasal alae Severe intrauterine growth retardation Poor suck Subcapsular cataract Prematurely aged appearance Thin ribs Reduced subcutaneous adipose tissue Congenital glaucoma Multiple joint contractures Mild short stature Athetosis Redundant skin Hyperextensible skin Hypotelorism Adducted thumb Cutis laxa Opacification of the corneal stroma Wormian bones Congenital hip dislocation Large fontanelles Thin skin Fine hair Blue sclerae Decreased fetal movement Prominent antihelix



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Paralysis, related diseases and genetic alterations Hydrocephalus and Cleft upper lip, related diseases and genetic alterations Depressed nasal bridge and Nephrotic syndrome, related diseases and genetic alterations

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