Scoliosis, and Inguinal hernia

Diseases related with Scoliosis and Inguinal hernia

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


Top matches:

High match EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2


Related symptoms:

  • Scoliosis
  • Neoplasm
  • Fever
  • Inguinal hernia
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2

High match HYPEREKPLEXIA 4; HKPX4


Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by Piard et al., 2018).For a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Flexion contracture
  • High palate
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 4; HKPX4

High match OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8


Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Cabral et al. (2007) described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses.

OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8 Is also known as oi, type viii

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Kyphosis
  • Inguinal hernia


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8

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Other less relevant matches:

Medium match BRUCK SYNDROME


Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.

BRUCK SYNDROME Is also known as osteogenesis imperfecta with congenital joint contractures|osteogenesis imperfecta-congenital joint contractures syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Talipes equinovarus
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRUCK SYNDROME

Medium match MONOSOMY 5P


Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

Medium match FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION


Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.

FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION Is also known as familial taad

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Hypertension
  • Dilatation
  • Patent ductus arteriosus


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

Medium match JOUBERT SYNDROME 7; JBTS7


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 7; JBTS7

Medium match MUCOPOLYSACCHARIDOSIS TYPE 7


Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.

MUCOPOLYSACCHARIDOSIS TYPE 7 Is also known as mpsvii|beta-glucuronidase deficiency|sly disease|mucopolysaccharidosis type vii|mps7

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscular hypotonia
  • Short neck
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 7

Medium match EHLERS-DANLOS SYNDROME TYPE 1


Ehlers-Danlos syndrome, type I belongs to the classical type Ehlers-Danlos syndrome. It results most often from mutations in either the COL5A1 gene or the COL5A2 gene.

EHLERS-DANLOS SYNDROME TYPE 1 Is also known as eds i

Related symptoms:

  • Scoliosis
  • Hypertension
  • Hernia
  • Pectus excavatum
  • Inguinal hernia


SOURCES: MESH ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 1

Medium match 15Q14 MICRODELETION SYNDROME


15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

15Q14 MICRODELETION SYNDROME Is also known as del(15)(q14)|monosomy 15q14

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 15Q14 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Scoliosis and Inguinal hernia

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Umbilical hernia Uncommon - Between 30% and 50% cases
Hernia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Recurrent fractures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Scoliosis and Inguinal hernia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Kyphosis Intellectual disability Bruising susceptibility

Rare Symptoms - Less than 30% cases


Pectus carinatum Growth delay Osteoporosis Muscular hypotonia Platyspondyly Triangular face Round face Pes planus Wormian bones Increased susceptibility to fractures Arthrogryposis multiplex congenita Femoral bowing Hypertension Joint hyperflexibility Talipes equinovarus Joint stiffness Low-set, posteriorly rotated ears Short neck Microcephaly Aortic aneurysm Osteopenia Hypertelorism Atrophic scars Flexion contracture High palate Aortic dissection Seizures Generalized hypotonia Ataxia Coarse facial features Brainstem dysplasia Epiphyseal stippling Renal insufficiency Neonatal breathing dysregulation Absence of renal corticomedullary differentiation Splenomegaly Recurrent respiratory infections Corneal opacity Lymphedema Flat face Ptosis Polydactyly Strabismus Hepatitis Abnormality of the hip bone Nystagmus Metatarsus adductus Hydrops fetalis Ascites Renal cyst Episodic tachypnea Molar tooth sign on MRI Apraxia Renal hypoplasia Retinal dystrophy Encephalocele Horizontal nystagmus Oculomotor apraxia Postaxial polydactyly Mutism Hypoplasia of the brainstem Stage 5 chronic kidney disease Postaxial hand polydactyly Nephronophthisis Genu valgum Abnormal retinal morphology Abnormality of eye movement Occipital encephalocele Severe postnatal growth retardation Apnea Abnormality of the eye Central apnea Abnormal corpus callosum morphology Meningoencephalocele Pointed chin Arteriovenous malformation Tented upper lip vermilion Delayed speech and language development Motor delay Ventricular septal defect Atrial septal defect Abnormality of the dentition Long philtrum Immunodeficiency Posteriorly rotated ears Autism High forehead Deeply set eye Cleft lip Laryngomalacia Intellectual disability, moderate Abnormal cardiac septum morphology Short philtrum Prominent nasal bridge Smooth philtrum Oral cleft Long face Bulbous nose Everted lower lip vermilion Highly arched eyebrow Convex nasal ridge Low-set ears Cleft palate Abnormality of the pleura Congenital diaphragmatic hernia Enlarged thorax Diaphyseal thickening Mucopolysacchariduria Anterior beaking of lumbar vertebrae Anterior beaking of lower thoracic vertebrae Narrow forehead Pectus excavatum Biparietal narrowing Cystic medial necrosis of the aorta Retinal detachment Mitral valve prolapse Thin skin Abnormal oral cavity morphology Recurrent urinary tract infections Joint dislocation Dermal atrophy Hallux valgus Abnormal heart valve morphology Soft skin Genu recurvatum Varicose veins Peritonitis Bladder diverticulum Acne Femoral hernia Gastroesophageal reflux Dilatation of the cerebral artery Paroxysmal dyspnea Delayed cranial suture closure Brisk reflexes Distal arthrogryposis Exaggerated startle response Proptosis Joint laxity Narrow chest Short metacarpal Blue sclerae Wide anterior fontanel Disproportionate short-limb short stature Tibial bowing Hypsarrhythmia Slender long bone Thin ribs Radial bowing Barrel-shaped chest Vertebral compression fractures Decreased skull ossification Multiple prenatal fractures Externally rotated/abducted legs Type 1 collagen overmodification Respiratory insufficiency Bowing of the long bones Adducted thumb Delayed myelination Knee flexion contracture Premature loss of teeth Fever Arthralgia Irritability Joint hypermobility Lymphoma Osteoarthritis Hyperextensible skin Nephroblastoma Fragile skin Gingival bleeding Periodontitis Camptodactyly Gingival recession Hyperreflexia Tremor Respiratory distress Hypertonia Cerebral atrophy Encephalopathy Myoclonus Respiratory failure Kyphoscoliosis Rigidity Elbow flexion contracture Pterygium Descending aortic dissection Peripheral arterial stenosis Ischemic stroke Cutis marmorata Coronary artery atherosclerosis Exertional dyspnea Abnormality of the sternum Aortic root aneurysm Hemoptysis Neoplasm Subarachnoid hemorrhage Transient ischemic attack Left ventricular failure Aortic regurgitation Pneumothorax Thoracic aortic aneurysm Hypovolemia Dural ectasia Abdominal aortic aneurysm Ascending aortic dissection Prenatal maternal abnormality Abnormality of connective tissue Carotid artery dilatation Descending thoracic aorta aneurysm Abnormality iris morphology Bicuspid aortic valve Tall stature Bilateral talipes equinovarus Preauricular skin tag Hydroxyprolinuria Epicanthus Wide nasal bridge Intrauterine growth retardation Downslanted palpebral fissures Intellectual disability, severe Abnormality of cardiovascular system morphology Finger syndactyly Severe global developmental delay Small hand Microretrognathia Cardiomegaly Abnormality of the voice High pitched voice Abnormality of bone mineral density Cat cry Dilatation Patent ductus arteriosus Retrognathia Stroke Arachnodactyly High, narrow palate Chest pain Everted upper lip vermilion



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