Myopathy, and Umbilical hernia

Diseases related with Myopathy and Umbilical hernia

In the following list you will find some of the most common rare diseases related to Myopathy and Umbilical hernia that can help you solving undiagnosed cases.

Top matches:

Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Other less relevant matches:

Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (OMIM ) and nonlethal (Escobar) types.

MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS Is also known as escobar syndrome|multiple pterygium syndrome|pterygium syndrome|multiple pterygium syndrome, nonlethal type|pterygium colli syndrome|pterygium universale

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS

SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Is also known as sja syndrome|schwartz-jampel-aberfeld syndrome|sjs|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities|schwartz-jampel syndrome|chondrodystrophic myotonia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.

SCHWARTZ-JAMPEL SYNDROME Is also known as myotonic chondrodystrophy|schwartz-jampel-aberfeld syndrome|burton skeletal dysplasia|sjs|myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies|dysostosis enchondralis metaepiphysaria, catel-hempel type|burton syndrome|aberfeld syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME

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). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

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; MANSA

Medium match WILLIAMS SYNDROME

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Top 5 symptoms//phenotypes associated to Myopathy and Umbilical hernia

Symptoms // Phenotype % cases
Inguinal hernia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Talipes equinovarus Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Myopathy and Umbilical hernia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Skeletal muscle atrophy

Uncommon Symptoms - Between 30% and 50% cases

Hypertension Micrognathia Pain Delayed skeletal maturation Osteopenia Intellectual disability Global developmental delay Generalized hypotonia Short stature Flexion contracture Myopia Ptosis Hearing impairment Hypertelorism Microcephaly Abnormality of the skeletal system Cleft palate Dental malocclusion Narrow mouth Osteoporosis Short neck Kyphosis Midface retrusion Cataract Long philtrum Joint stiffness Abnormal facial shape Elevated serum creatine phosphokinase Kyphoscoliosis Pes planus Motor delay Epicanthus Gait disturbance Genu valgum Hip dysplasia Attention deficit hyperactivity disorder Scarring Skeletal dysplasia Cryptorchidism Blepharophimosis Pectus carinatum Arachnodactyly Myalgia Growth delay Ventricular hypertrophy Anxiety Full cheeks Broad forehead Portal hypertension Bowing of the long bones Hyperlordosis Low-set, posteriorly rotated ears Malar flattening Splenomegaly Neurological speech impairment Microcornea Pectus excavatum Dysphagia Muscular hypotonia Camptodactyly Failure to thrive Skeletal muscle hypertrophy High palate Talipes Protruding ear Constipation Sensorineural hearing impairment Strabismus Congestive heart failure Respiratory distress

Rare Symptoms - Less than 30% cases

Blepharospasm Generalized hirsutism Hip contracture Malignant hyperthermia Overfolded helix High pitched voice Coxa valga Myotonia Coxa vara Hypothyroidism Apnea EMG abnormality Arthrogryposis multiplex congenita Low-set ears Downslanted palpebral fissures Respiratory insufficiency Micropenis Delayed gross motor development Abnormality of the kidney Respiratory tract infection Generalized muscle weakness Polycystic ovaries Down-sloping shoulders Abnormality of the neck Failure to thrive in infancy Hyporeflexia Rigidity Platyspondyly Flat face Decreased testicular size Hypoplasia of the musculature Flexion contracture of toe Adducted thumb Dysmetria Behavioral abnormality Intellectual disability, mild Mitral valve prolapse Recurrent infections Depressivity Recurrent respiratory infections Sudden cardiac death Arthralgia Macrotia Coarse facial features Hepatosplenomegaly Corneal opacity Macroglossia Frontal bossing Otitis media Type II diabetes mellitus Amblyopia Gingival overgrowth Recurrent bacterial infections Widely spaced teeth Prominent supraorbital ridges Chronic otitis media Open bite Patellar dislocation Synostosis of joints Feeding difficulties Abnormality of the dentition Macrocephaly Reduced bone mineral density Irritability Pointed chin Wrist flexion contracture Weak voice Diabetes mellitus Pursed lips Shoulder flexion contracture Generalized muscle hypertrophy Long eyelashes in irregular rows Visual impairment Hypertonia Arrhythmia Feeding difficulties in infancy Everted lower lip vermilion Dysarthria Nephrolithiasis Mitral regurgitation Low anterior hairline Dysphonia Spinal rigidity Ataxia Spasticity Cognitive impairment Delayed speech and language development Depressed nasal bridge Hepatomegaly Hyperreflexia Increased bone mineral density Cerebral atrophy Vesicoureteral reflux Stroke Fever Right ventricular hypertrophy Pulmonary arterial hypertension Coarctation of aorta Prominent superficial veins Soft skin Pulmonic stenosis Abnormality of the cerebral white matter Abdominal pain Abnormal cardiac septum morphology Small nail Hypotelorism Seizures Patent ductus arteriosus Proximal muscle weakness Abnormal heart morphology Dilatation Disproportionate tall stature Syndactyly Ventricular septal defect Polyhydramnios Progressive proximal muscle weakness Blue sclerae Cutis marmorata Prominent nasal bridge Bladder diverticulum Joint hypermobility Prune belly Ischemic stroke Abnormality of the foot Hyperextensible skin Patent foramen ovale Cutis laxa Vomiting Bruising susceptibility Muscular dystrophy Chronic constipation Pancreatitis Recurrent urinary tract infections Abnormality of the voice Schizophrenia Arnold-Chiari malformation Cholelithiasis Incoordination Precocious puberty Radioulnar synostosis Redundant skin Abnormality of pelvic girdle bone morphology Hyperkeratosis Hypercalcemia Hypercalciuria Megaduodenum Nephritis Restlessness Blue irides Vocal cord paralysis Multiple renal cysts Abnormality of the vasculature Pulmonary artery stenosis Poor coordination Nevus flammeus Arnold-Chiari type I malformation Posterior embryotoxon Abnormality of lipid metabolism Megalocornea Insomnia Facial cleft Obsessive-compulsive behavior Prematurely aged appearance High hypermetropia Celiac disease Vertebral segmentation defect Premature graying of hair Hallux valgus Loss of consciousness Infantile muscular hypotonia Glucose intolerance Tracheoesophageal fistula Hypoplastic toenails Abnormality of dental morphology Unilateral renal agenesis Polyuria Abnormality of the fingernails Sacral dimple Developmental regression Postural instability Sleep disturbance Thick vermilion border Oral cleft Smooth philtrum Joint hyperflexibility Malabsorption Carious teeth Nausea and vomiting Small for gestational age Craniosynostosis Wide mouth Paralysis Autistic behavior Intellectual disability, moderate Broad nasal tip Cerebral cortical atrophy Absent speech Obesity Clinodactyly of the 5th finger Cerebellar hypoplasia Poor head control Glaucoma Autism Cleft lip Gastroesophageal reflux High forehead Severe muscular hypotonia Proteinuria Joint laxity Hypertrophic cardiomyopathy Hypodontia Chest pain Bicuspid aortic valve Hypogonadotrophic hypogonadism Abnormal form of the vertebral bodies Involuntary movements Aortic valve stenosis Hoarse voice Narrow face Increased body weight Hemivertebrae Open mouth Nephrocalcinosis Abnormality of dental enamel Tubulointerstitial nephritis Spina bifida occulta Abnormal dermatoglyphics Progressive hearing impairment Waddling gait Recurrent otitis media Esotropia Sloping forehead Renal agenesis Microdontia Dehydration Tetralogy of Fallot Abnormality of the cardiovascular system Narrow forehead Hypoplasia of penis Hemiparesis Abnormality of extrapyramidal motor function Cardiomegaly Hypsarrhythmia Renal hypoplasia Thick lower lip vermilion Myocardial infarction Hypoplasia of the zygomatic bone Periorbital fullness Large earlobe Long eyelashes Hyperinsulinemia Pyloric stenosis Ventricular arrhythmia Cardiomyopathy Ventricular tachycardia Atherosclerosis Hyperlipidemia Acanthosis nigricans Accelerated skeletal maturation Exercise intolerance Muscle stiffness Bradycardia Sparse and thin eyebrow Insulin resistance Thin skin Ventricular fibrillation Palpitations Hypertriglyceridemia Atrial fibrillation Epidermal acanthosis Growth hormone deficiency Hepatic steatosis Hirsutism Tachycardia Spastic paraplegia Distal muscle weakness Postnatal growth retardation Neonatal hypotonia Elevated hepatic transaminase Atrophy/Degeneration involving the corticospinal tracts Lipodystrophy Increased variability in muscle fiber diameter Descending aorta hypoplasia Polymorphic ventricular tachycardia Fragile skin Bilateral talipes equinovarus Joint dislocation Dental crowding Telecanthus Brachycephaly Adipose tissue loss Muscle mounding Abnormality of skeletal muscle fiber size Cervical spine instability Prominent umbilicus Abnormality of upper lip Congenital generalized lipodystrophy Atlantoaxial instability Abnormal levels of creatine kinase in blood Mildly elevated creatine phosphokinase Supraventricular tachycardia Prolonged QT interval Reduced subcutaneous adipose tissue Lipoatrophy Secondary amenorrhea IgA deficiency Protuberant abdomen Exercise-induced myalgia Fasting hyperinsulinemia Ileus Generalized lipodystrophy Prolonged QTc interval Atlantoaxial dislocation Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Vocal cord dysfunction Functional abnormality of male internal genitalia Abnormality of the cerebral vasculature Rectal prolapse Colonic diverticula Renal duplication Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Thyroid hypoplasia Retinal vascular tortuosity Increased nuchal translucency Abnormal glucose tolerance Urethral stenosis Parathyroid hyperplasia Phonophobia Abnormality of nervous system morphology Dysgraphia Arterial stenosis Periorbital edema Abnormality of the ankles Peptic ulcer Cystic renal dysplasia Lacrimation abnormality Abnormal renal morphology Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Decreased plasma carnitine Short nose Gait imbalance Abnormality of refraction Cerebral ischemia Dyslexia Villous atrophy Enuresis Vascular tortuosity Tubulointerstitial abnormality Stellate iris Impaired visuospatial constructive cognition Dyssynergia Early onset of sexual maturation Overfriendliness Nystagmus-induced head nodding Thyroid hemiagenesis Bilateral vocal cord paralysis Elfin facies Medial flaring of the eyebrow Abnormality of the diencephalon Abnormal carotid artery morphology Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Calcification of the aorta Supravalvular aortic stenosis Overriding aorta Retinal arteriolar tortuosity Aortic arch aneurysm Obsessive-compulsive trait Nocturia Abnormality of the bladder Renal artery stenosis Coronary artery stenosis Hyperacusis Flat cornea Pelvic kidney Food intolerance Infantile hypercalcemia Abnormality of the gastric mucosa Renovascular hypertension Abnormal social behavior Renal insufficiency Increased hepatic glycogen content Atrial septal defect Recurrent fractures Pneumonia Metaphyseal widening Sleep apnea Narrow palpebral fissure Weight loss Hydronephrosis Congenital hip dislocation Abnormal autonomic nervous system physiology Elbow flexion contracture Joint contracture of the hand Abnormality of the liver Lumbar hyperlordosis Ophthalmoplegia Narrow chest Diarrhea Abdominal distention Round face Intestinal malrotation Overgrowth Interphalangeal joint contracture of finger Proptosis Aganglionic megacolon Hyperhidrosis Severe short stature Horseshoe kidney External ophthalmoplegia Hypoalbuminemia Intestinal obstruction Abnormality of cardiovascular system morphology Anteverted nares Dysplastic patella Anterior bowing of long bones Decreased body weight Abnormality of the metaphysis Abnormality of the ribs Spastic diplegia Micromelia Aplasia cutis congenita Oligodactyly Dystrophic toenail Calcinosis Esophageal varix Right ventricular failure Aplasia cutis congenita of scalp Cavernous hemangioma Hypersplenism Constrictive median neuropathy Abnormality of femoral epiphysis Smooth tongue Portal vein thrombosis Prominent scalp veins Cutis marmorata telangiectatica congenita Percussion myotonia Talipes valgus Temperature instability Chronic hepatic failure Spinal deformities Calcinosis cutis Right atrial enlargement Peripheral neuropathy Coronal cleft vertebrae Malnutrition Anterior clefting of vertebral bodies Abnormality of epiphysis morphology Peritonitis Abnormal vertebral morphology Abnormality of the genital system Decreased fetal movement Congenital diaphragmatic hernia Hyperparathyroidism Downturned corners of mouth Pulmonary hypoplasia Long face Episodic abdominal pain Delayed puberty Hip dislocation Achalasia Volvulus Conductive hearing impairment Cutaneous syndactyly Aplasia/Hypoplasia of the abdominal wall musculature Abdominal situs inversus Hypogonadism Intestinal pseudo-obstruction Hypospadias Urinary retention Pollakisuria Microcolon Megacystis Urethral obstruction Barrett esophagus Neuroma Gastrointestinal obstruction Aortic regurgitation Pterygium Absence of labia majora Long clavicles Exostosis of the external auditory canal Intercrural pterygium Neck pterygia Axillary pterygium Hypoplastic heart Bilateral camptodactyly Antecubital pterygium Cervical C2/C3 vertebral fusion Talipes calcaneovalgus Camptodactyly of toe Popliteal pterygium Multiple pterygia Clitoral hypoplasia Diaphragmatic eventration Congenital contracture Fused cervical vertebrae Rib fusion Patellar aplasia Male hypogonadism Furrowed tongue Anonychia Hydroureter Distal arthrogryposis Hypoplastic nipples Dislocated radial head Vertebral fusion Multiple joint contractures Rocker bottom foot Neonatal respiratory distress Abnormality of the coagulation cascade Wormian bones Tremor Bowel incontinence Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Delusions Poor suck Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Thickened calvaria Abnormality of the sternum Femoral bowing Neurodevelopmental delay Increased susceptibility to fractures Abnormality of the helix Bowing of the legs Flat occiput Heart murmur Congenital muscular dystrophy Increased intracranial pressure Difficulty climbing stairs Atrophic scars Narrow palate Spastic gait Hallucinations Limb ataxia Follicular hyperkeratosis Tall stature Reduced ejection fraction Spondylolisthesis Hypertrichosis Generalized abnormality of skin Intrauterine growth retardation Wide nasal bridge Easy fatigability 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 Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Hypoperistalsis Craniofacial hyperostosis Increased vertebral height Spondylolysis Oligosacchariduria Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormal cornea morphology Abnormality of the rib cage Progressive neurologic deterioration Depressed nasal ridge Laryngomalacia Abnormally ossified vertebrae Ventriculomegaly Optic atrophy Severe global developmental delay Hepatic failure Ascites Nystagmus Abnormally straight spine Elevated aldolase level Testicular torsion Odontogenic neoplasm Prenatal movement abnormality Metatarsus valgus Protrusio acetabuli Distichiasis Intellectual disability, severe Abnormality of the pharynx Aplasia/Hypoplasia affecting the eye Trismus Abnormal eyebrow morphology Sprengel anomaly Abnormality of the ureter Abnormality of immune system physiology Increased number of teeth Hyperammonemia Mask-like facies Elbow dislocation Ectopia lentis Cachexia Abnormality of the urinary system Hydrocephalus Cerebellar atrophy Psychosis Confusion Pancytopenia Cleft soft palate Optic disc pallor Peripheral demyelination Decreased antibody level in blood Delayed myelination Gliosis Progressive cerebellar ataxia Keloids Neurodegeneration Highly arched eyebrow Thick eyebrow Retinal degeneration High-frequency sensorineural hearing impairment Hyperactivity Hypermetropia Arterial rupture Mental deterioration Arthritis Abnormal eye morphology Aortic rupture Mandibular prognathia Gait ataxia Prominent forehead Brachydactyly Babinski sign Areflexia Encephalopathy Immunodeficiency Facial hypotonia


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