Flexion contracture, and Umbilical hernia

Diseases related with Flexion contracture and Umbilical hernia

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

Top matches:

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

Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy (see this term) characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1 Is also known as muscular atrophy, infantile|sma type 1|sma-i|infantile spinal muscular atrophy|sma, infantile acute form|sma1|werdnig-hoffmann disease|sma i|sma type i

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1

Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.

FAMILIAL VISCERAL MYOPATHY Is also known as familial hollow visceral myopathy|megaduodenum and/or megacystis|hereditary hollow visceral myopathy

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cleft palate
  • Anteverted nares
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL VISCERAL MYOPATHY

Other less relevant matches:

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD

CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD

Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

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

ANEURYSM-OSTEOARTHRITIS SYNDROME Is also known as loeys-dietz syndrome with osteoarthritis|loeys-dietz syndrome, type 1c, formerly|lds1c, formerly|aneurysms-osteoarthritis syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Pain
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANEURYSM-OSTEOARTHRITIS SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Umbilical hernia

Symptoms // Phenotype % cases
Hernia Very Common - Between 80% and 100% cases
Scoliosis Common - Between 50% and 80% cases
Inguinal hernia Common - Between 50% and 80% cases
Camptodactyly Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Arachnodactyly Hearing impairment Soft skin Bruising susceptibility Respiratory distress Pes planus Hyperextensible skin Abnormality of the skeletal system Abnormality of the dentition Cutis laxa Sensorineural hearing impairment Osteoporosis Pulmonic stenosis Patent ductus arteriosus Blue sclerae Cleft palate Joint laxity Joint hypermobility Global developmental delay Seizures High palate

Rare Symptoms - Less than 30% cases

Skeletal muscle atrophy Microcornea Adducted thumb Dental malocclusion Atrophic scars Dilatation Conductive hearing impairment Abnormal facial shape Scarring Epicanthus Osteoarthritis Kyphoscoliosis Hypertelorism Mitral regurgitation Disproportionate tall stature Short stature Subarachnoid hemorrhage Wide nasal bridge Downslanted palpebral fissures Talipes equinovarus Muscle weakness Long philtrum Striae distensae Abnormality of the foot Abnormal joint morphology Gingival overgrowth Pain Cerebral atrophy Mitral valve prolapse Gait disturbance Edema Increased susceptibility to fractures Myopia Anteverted nares Joint hyperflexibility Atrial septal defect Respiratory failure Respiratory insufficiency Urticaria Hypermelanotic macule Tall stature Hoarse voice Vasculitis Arterial tortuosity Abnormality of epiphysis morphology Congenital hip dislocation Hip dysplasia Joint dislocation Osteolysis Protrusio acetabuli Uterine prolapse High myopia Dermal atrophy Intervertebral disc degeneration Corneal erosion Thin skin Megalocornea Corneal scarring Shoulder dislocation Flat cornea Keratoglobus Sclerocornea Decreased corneal thickness Abnormality of hair pigmentation Neoplasm Dural ectasia Keratoconus Fine hair Recurrent infections Hallux valgus Arthralgia Arthritis Erythema Abdominal aortic aneurysm Autoimmunity Corneal dystrophy Carious teeth Microdontia Agenesis of permanent teeth Gingival bleeding Long nose Abnormal eye morphology Easy fatigability Poor suck Congenital muscular dystrophy Difficulty climbing stairs Low back pain Spondylolisthesis Follicular hyperkeratosis Cleft soft palate Bladder diverticulum Keloids High-frequency sensorineural hearing impairment Arterial rupture Aortic rupture Severe muscular hypotonia Headache Migraine Ventricular hypertrophy Atrial fibrillation Left ventricular hypertrophy Aortic regurgitation Bicuspid aortic valve Aortic dissection Back pain Aortic aneurysm Abnormality of the sternum Slender finger Dilatation of the cerebral artery Poor head control Hypotelorism Skin vesicle Thoracic aortic aneurysm Fragile skin Premature loss of teeth Gingivitis Periodontitis Generalized joint laxity Mitral stenosis Chronic pain Premature loss of primary teeth Poor wound healing Cigarette-paper scars Hip osteoarthritis Premature loss of permanent teeth Gingival recession Intestinal perforation Sloping forehead Severe periodontitis Atrophy of alveolar ridges Alveolar bone loss around teeth Muscular hypotonia Osteochondritis Dissecans Motor delay Cardiomyopathy Myopathy Elevated serum creatine phosphokinase Hyperkeratosis Osteopenia Muscular dystrophy Waddling gait Palmoplantar cutis laxa Chronic otitis media Recurrent fractures Hydroureter Microcephaly Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Joint stiffness Camptodactyly of finger Prominent nasal bridge Broad forehead Narrow chest Abdominal distention Vesicoureteral reflux Round face Aganglionic megacolon Anonychia Degeneration of anterior horn cells Hyperparathyroidism Aplasia/Hypoplasia of the abdominal wall musculature Abdominal situs inversus Megacystis Ptosis Feeding difficulties Optic atrophy Ventriculomegaly Blindness Jaundice Developmental regression Abnormality of the pinna Wide intermamillary distance Proximal muscle weakness in lower limbs Decreased number of large peripheral myelinated nerve fibers Cerebral visual impairment Ventricular septal defect Hyperreflexia Tremor Hypertonia Encephalopathy Myoclonus Rigidity Arthrogryposis multiplex congenita Delayed myelination Hypsarrhythmia Brisk reflexes Distal arthrogryposis Exaggerated startle response Areflexia Tongue fasciculations Abnormal heart morphology Recurrent respiratory infections Proximal muscle weakness Muscular hypotonia of the trunk Paralysis Abnormal cardiac septum morphology Decreased fetal movement Tetraparesis Recurrent pneumonia Spinal muscular atrophy Axonal degeneration EMG: neuropathic changes Proximal amyotrophy Coarctation of aorta Absence seizures Retinal detachment Mesomelia Thin upper lip vermilion Cleft lip Wide mouth Short distal phalanx of finger Otitis media Overgrowth Limb undergrowth Broad thumb Dental crowding Short phalanx of finger Increased bone mineral density Oligodontia Thickened calvaria High forehead Depressed nasal tip Generalized osteosclerosis Narrow naris Triangular mouth Mesomelic short stature Narrow nasal tip Otitis media with effusion Pectus excavatum Visual loss Glaucoma Neonatal hypotonia Myalgia Hip dislocation Skeletal dysplasia Proptosis Hypoplastic left heart Neonatal respiratory distress Cystic hygroma Double outlet right ventricle Tethered cord Delayed speech and language development Short neck Cerebellar atrophy Gastroesophageal reflux Poor speech Full cheeks Elbow flexion contracture Knee flexion contracture Congenital contracture Hip contracture Micropenis Short columella Breathing dysregulation Pursed lips Enlarged naris Cryptorchidism Depressed nasal bridge Brachydactyly Macrocephaly Frontal bossing Short nose Midface retrusion Clinodactyly Severe short stature Knee osteoarthritis


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