Depressed nasal bridge, and Headache

Diseases related with Depressed nasal bridge and Headache

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

Top matches:

Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Depressed nasal bridge
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD

JACKSON-WEISS SYNDROME; JWS Is also known as craniosynostosis, midfacial hypoplasia, and foot abnormalities

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about JACKSON-WEISS SYNDROME; JWS

High match SCLEROSTEOSIS

Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome|sost|cortical hyperostosis with syndactyly

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCLEROSTEOSIS

Other less relevant matches:

Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

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

Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.

SAETHRE-CHOTZEN SYNDROME Is also known as acs3|acrocephalosyndactyly type 3|scs|acrocephaly, skull asymmetry, and mild syndactyly|acs iii|acrocephalosyndactyly, type iii|chotzen syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SAETHRE-CHOTZEN SYNDROME

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

Medium match PROTEUS SYNDROME

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Headache

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Short stature Global developmental delay Abnormality of cardiovascular system morphology Syndactyly Proptosis Dental malocclusion Gliosis Craniosynostosis Cognitive impairment Vomiting Fever Neoplasm Scoliosis Hearing impairment Low-set ears Epicanthus Abnormal heart morphology Hyperlordosis Cataract Hyperostosis Macrocephaly Pain Optic atrophy Mandibular prognathia Myopia Failure to thrive High forehead Clinodactyly Clinodactyly of the 5th finger Posteriorly rotated ears Nystagmus Increased bone mineral density Sensorineural hearing impairment Finger syndactyly Increased intracranial pressure Congestive heart failure Cardiomyopathy Facial asymmetry Cutaneous syndactyly Short neck Broad forehead Conductive hearing impairment Growth delay Abnormal form of the vertebral bodies Cleft palate Midface retrusion Asymmetry of the thorax Abnormality of the skeletal system Frontal bossing Edema Malar flattening Wide nasal bridge Anteverted nares Downslanted palpebral fissures Heterotopia

Rare Symptoms - Less than 30% cases

Kyphoscoliosis Dolichocephaly Coma Splenomegaly Aciduria Thick lower lip vermilion Gastroesophageal reflux Polyhydramnios Dilatation Pancreatitis Hyperammonemia Long face Abdominal pain Episodic vomiting Open mouth Patent ductus arteriosus Myopathy Pectus excavatum Motor delay Multiple lentigines Feeding difficulties Hypertension Telecanthus Facial hyperostosis Lymphopenia Neurofibromas Azoospermia Mutism Melanocytic nevus Generalized hypotonia Waddling gait Abnormal vertebral morphology Hypertrophic cardiomyopathy Skeletal dysplasia Multiple cafe-au-lait spots Lymphangioma Left ventricular hypertrophy Lumbar hyperlordosis Migraine Diarrhea Hypothyroidism Renal cyst Abnormality of the dentition Kyphosis Immunodeficiency Recurrent infections Thrombocytopenia High, narrow palate Lymphedema Abdominal distention Confusion Webbed neck Wide intermamillary distance Hip dislocation Coarctation of aorta Abnormality of skin pigmentation Intellectual disability, mild Constipation Atrial septal defect Narrow palate Overgrowth Flat face Buphthalmos Paralysis Facial palsy Papilledema Visual loss Amblyopia Craniofacial dysostosis Craniofacial hyperostosis Anterior plagiocephaly Plagiocephaly Abnormality of pelvic girdle bone morphology Delayed cranial suture closure Shallow orbits Hallux valgus Narrow internal auditory canal Broad hallux Lethargy Craniofacial osteosclerosis Epidermal acanthosis Convex nasal ridge Hydrocephalus Hypoplasia of the maxilla Elevated alkaline phosphatase Abnormality of the pinna Broad ribs Brachydactyly Stroke Ventricular septal defect Carcinoma Thin upper lip vermilion High palate Encephalopathy Micrognathia Microcephaly Spasticity Respiratory distress Cryptorchidism Flexion contracture Genu valgum Ataxia Cleft lip Microtia Intellectual disability, moderate Brachycephaly Low-set, posteriorly rotated ears Broad clavicles Camptodactyly Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Lacrimal duct stenosis Anal atresia Pectus excavatum of inferior sternum Hypoplastic aortic arch Apnea Parietal foramina Optic disc hypoplasia Abnormal nasolacrimal system morphology Ophthalmoplegia Schwannoma Synovitis Shield chest Amegakaryocytic thrombocytopenia Reduced factor XIII activity Gonadal neoplasm Intellectual disability, severe Neoplasm of the breast Restrictive cardiomyopathy Bilateral cleft lip and palate Hydronephrosis Cleft upper lip Retrognathia Prominent forehead Severe short stature Long philtrum Hypoplasia of the corpus callosum Lambdoidal craniosynostosis Ventriculomegaly Oxycephaly Talipes equinovarus Abnormal hair pattern Delayed speech and language development Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Arachnodactyly Congenital adrenal hyperplasia Abnormality of the coagulation cascade Atrial flutter Hypotrichosis Deviated nasal septum Amenorrhea Duplication of the distal phalanx of hand Premature closure of fontanelles Abnormal bleeding Triangular face Proximal radio-ulnar synostosis Bruising susceptibility Pulmonic stenosis Prominent crus of helix Renotubular dysgenesis Partial duplication of the distal phalanx of the 3rd finger Low posterior hairline Leukemia Partial duplication of the distal phalanx of the 2nd finger Abnormal cardiac septum morphology Absent first metatarsal Sparse hair Cleft of chin Postnatal growth retardation Hypogonadism Rod-cone dystrophy Thick vermilion border Hernia Ventricular hypertrophy Primary amenorrhea Nonimmune hydrops fetalis Leukocytosis Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Abnormality of blood and blood-forming tissues Neuroblastoma Abnormality of the vertebral column Male infertility Cystic hygroma Abnormality of color vision Flat forehead Adrenogenital syndrome Clumsiness Craniofacial asymmetry Radial deviation of finger Mild hearing impairment Cubitus valgus Myelodysplasia Patent foramen ovale Failure to thrive in infancy Pterygium Poor suck Arnold-Chiari malformation Bicuspid aortic valve Skull asymmetry Thin vermilion border Ectopic anus Delayed eruption of teeth Lipoma Ovarian neoplasm Generalized hyperpigmentation Pulmonary embolism Spinal canal stenosis Irregular hyperpigmentation Abnormal lung lobation Neoplasm of the lung Exostoses Multiple lipomas Capillary hemangioma Spinal cord compression Abnormality of finger Abnormality of the wrist Macroorchidism Meningioma Deep venous thrombosis Hamartoma Pericardial effusion Arteriovenous malformation Goiter Sinusitis Abnormality of the nail Generalized hirsutism Abnormality of dental enamel Venous thrombosis Hemangioma Abnormality of the metacarpal bones Palmoplantar hyperkeratosis Disproportionate tall stature Reduced number of teeth Growth abnormality Cachexia Lipodystrophy Chorioretinal coloboma Diabetes insipidus Decreased muscle mass Varicose veins Lower limb asymmetry Thickened skin Retinal hamartoma Metatarsus valgus Calvarial hyperostosis Portal vein thrombosis Macrodactyly Sirenomelia Nevus sebaceous Thymus hyperplasia Bronchogenic cyst Testicular neoplasm Retinal nonattachment Abnormal subcutaneous fat tissue distribution Neoplasm of the thymus Central heterochromia Connective tissue nevi Depigmentation/hyperpigmentation of skin Hypertrophy of skin of soles Epidermal nevus Upper limb asymmetry Abnormality of the neck Thick nasal alae Hemihypertrophy Anisocytosis Arterial thrombosis Myofibrillar myopathy Thin bony cortex Long penis Visceral angiomatosis Enlarged polycystic ovaries Keloids Asymmetric growth Vascular skin abnormality Thrombophlebitis Generalized hyperkeratosis Neoplasm of the central nervous system Venous malformation Epibulbar dermoid Nephrogenic diabetes insipidus Abnormality of retinal pigmentation Subcutaneous nodule Broad nasal tip Flat occiput Holoprosencephaly Nasal speech Pyloric stenosis Increased susceptibility to fractures Metaphyseal widening Overfolded helix Nephroblastoma Aphasia Osteolysis Dysphasia Hypoplastic left heart Visual field defect Mixed hearing impairment Partial agenesis of the corpus callosum Thickened calvaria Natal tooth Spina bifida occulta Microretrognathia Anal stenosis Abnormality of the metaphysis Bifid uvula Intestinal malrotation Abnormality of the skin Specific learning disability Cerebral calcification Narrow forehead Oligohydramnios Omphalocele Spontaneous abortion Aganglionic megacolon Large fontanelles Dental crowding Aortic valve stenosis Joint contracture of the hand Spina bifida Multicystic kidney dysplasia Submucous cleft hard palate Fibular hypoplasia High myopia Hyperkeratosis Unilateral facial palsy High iliac wings Osteopathia striata Metaphyseal striations Straight clavicles Paranasal sinus hypoplasia Glaucoma Macrotia Large iliac wings Joint stiffness Carious teeth Polymicrogyria Sudden cardiac death Nevus Round face Decreased antibody level in blood Laryngeal web Laryngotracheomalacia Tracheomalacia Large forehead Ankylosis Pierre-Robin sequence Osteopetrosis Misalignment of teeth Echolalia Blepharospasm Thoracic dysplasia Facial paralysis Alobar holoprosencephaly White forelock Delayed closure of the anterior fontanelle Fibular aplasia Otosclerosis Thoracolumbar kyphosis Sclerosis of skull base Flexion contracture of toe Rough bone trabeculation Adrenal hyperplasia Renal cortical cysts Abnormality of the antihelix Bone marrow hypocellularity Microdontia Nephrotic syndrome Intellectual disability, profound Fine hair Abnormal lung morphology Abnormality of epiphysis morphology Opacification of the corneal stroma Lymphoma Atherosclerosis Hyperlipidemia Reduced bone mineral density Coarse hair Chronic kidney disease Encephalitis Decreased testicular size Premature birth Epiphyseal dysplasia Corneal opacity Osteopenia Proteinuria Abnormality of the kidney Developmental regression Scarring Autoimmunity Platyspondyly Brain atrophy Malabsorption Astigmatism Stage 5 chronic kidney disease Bulbous nose Nephropathy Neutropenia Abnormal cerebellum morphology Glomerulosclerosis Glomerulonephritis Pneumonia Mucopolysacchariduria Subvalvular aortic stenosis Dentinogenesis imperfecta Cellular immunodeficiency Right ventricular cardiomyopathy Arteriosclerosis Hypoplasia of the capital femoral epiphysis Steroid-resistant nephrotic syndrome Cerebral ischemia Shallow acetabular fossae Increased thyroid-stimulating hormone level Encephalomalacia Abnormal T cell morphology Abnormal immunoglobulin level Moyamoya phenomenon Precocious atherosclerosis Villous atrophy Nephritis Steatorrhea Spondyloepiphyseal dysplasia Focal segmental glomerulosclerosis Emphysema High pitched voice Combined immunodeficiency Hypermelanotic macule Glomerulopathy Lymphoproliferative disorder Protuberant abdomen Abnormality of the vasculature Transient ischemic attack Thoracic kyphosis Ovoid vertebral bodies Disproportionate short-trunk short stature B-cell lymphoma Dementia Renal insufficiency Anterior pituitary dysgenesis Calcaneonavicular fusion Preaxial foot polydactyly Broad hallux phalanx Symphalangism affecting the phalanges of the hand Abnormality of fibula morphology Broad metatarsal Hallux varus Hyperactivity Split foot Esotropia Nail dysplasia Tall stature Anosmia Constriction of peripheral visual field Abnormal cranial nerve morphology Turricephaly Underdeveloped supraorbital ridges Abnormality of the nose Elevated circulating parathyroid hormone level Progressive visual loss Choanal atresia Hyperparathyroidism Facial diplegia Choanal stenosis Concave nasal ridge Parathyroid adenoma 2-3 toe syndactyly Bilateral conductive hearing impairment Diaphyseal sclerosis Thickened ribs Cortical sclerosis Acanthosis nigricans Abnormal palate morphology Short metatarsal Abnormal cortical bone morphology Fingernail dysplasia Cerebellar atrophy Respiratory alkalosis Alkalosis Episodic ataxia Cerebral edema Wide nasal base Paranoia Oroticaciduria Hypoargininemia Postaxial polydactyly Protein avoidance Hyperglutaminemia Episodic ammonia intoxication Low plasma citrulline Anemia Intrauterine growth retardation Acute hepatic failure Hepatic failure Diaphyseal thickening Curved distal phalanges of the hand Deviation of finger Esodeviation Sclerotic vertebral endplates Trigeminal neuralgia 2-3 finger syndactyly Sclerotic scapulae Facial palsy secondary to cranial hyperostosis Smooth philtrum Cortically dense long tubular bones Peripheral neuropathy Cerebral atrophy Hypospadias Polydactyly Mental deterioration Irritability Premature arteriosclerosis Nephrosclerosis Short columella Cataplexy Progressive spastic quadriplegia Personality disorder Hypoglycemic coma Nonketotic hypoglycemia Impaired mastication Limb tremor Narcolepsy Oliguria Gastrointestinal inflammation Arthralgia of the hip Glutaric acidemia Increased muscle lipid content Ketotic hypoglycemia Elevated plasma acylcarnitine levels Glutaric aciduria Generalized aminoaciduria Reye syndrome-like episodes Organic aciduria Ketosis Progressive proximal muscle weakness Cardiorespiratory arrest Ketonuria Excessive daytime somnolence Chronic fatigue Hypoketotic hypoglycemia Respiratory arrest Exercise-induced myalgia Medulloblastoma Proximal tubulopathy Abnormality of the renal tubule Abnormal corpus callosum morphology Loss of ability to walk Acute pancreatitis Reduced protein C activity Ethylmalonic aciduria Drowsiness Long nose Breast carcinoma Radioulnar synostosis Trigonocephaly Triphalangeal thumb Epiphora Open bite Vertebral fusion Sleep apnea Abnormality of digit External ear malformation Narrow nose Bilateral cleft lip Abnormality of the skull Coronal craniosynostosis Abnormality of the genitourinary system Coxa valga Hypersarcosinemia Abnormality of blood glucose concentration Fatigable weakness of distal limb muscles Fatigable weakness of neck muscles Abnormality of branched chain family amino acid metabolism Defective dehydrogenation of isovaleryl CoA and butyryl CoA Hepatic periportal necrosis Electron transfer flavoprotein-ubiquinone oxidoreductase defect Protruding ear Elbow flexion contracture Prominent nasal bridge Toe syndactyly Single transverse palmar crease Hypotelorism Broad thumb Low anterior hairline Bilateral single transverse palmar creases Myoglobinuria Fatigable weakness Lateral displacement of the femoral head Myalgia Arthralgia Jaundice Difficulty walking Hypoglycemia Elevated hepatic transaminase Proximal muscle weakness Respiratory tract infection Dyspnea Abnormality of the liver Dilated cardiomyopathy Abnormality of the cerebral white matter Congenital cataract Nausea and vomiting Limb muscle weakness Acidosis Weight loss Nausea Fatigue Muscle weakness Muscular hypotonia Hepatomegaly Dysarthria Tremor Gait disturbance Dysphagia Gait ataxia Respiratory insufficiency Behavioral abnormality Depressivity Arrhythmia Areflexia Elevated serum creatine phosphokinase Respiratory failure Joint hyperflexibility Lactic acidosis Acute kidney injury Polycystic kidney dysplasia Scapular winging Spastic tetraparesis Ragged-red muscle fibers Poor head control Easy fatigability Slurred speech Back pain Type I diabetes mellitus Hemiplegia Stridor Ventricular fibrillation Restrictive ventilatory defect Difficulty climbing stairs Glycosuria Rhabdomyolysis Exercise intolerance Cardiac arrest Pulmonary hypoplasia Cardiomegaly Hepatic steatosis Metabolic acidosis Muscle cramps Tetraplegia Generalized muscle weakness Increased serum lactate Tetraparesis Clonus Abnormality of the genital system Pachygyria Renal dysplasia Anorexia Wide anterior fontanel Decreased liver function Leukodystrophy Mandibular hyperostosis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Joint hypermobility, related diseases and genetic alterations Tremor and Paresthesia, related diseases and genetic alterations Low-set ears and Abnormality of the pinna, related diseases and genetic alterations Strabismus and Subcutaneous nodule, related diseases and genetic alterations Seizures and Muscular dystrophy, related diseases and genetic alterations Carcinoma and Bifid uvula, related diseases and genetic alterations