Flexion contracture, and Constipation

Diseases related with Flexion contracture and Constipation

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH; NEDSG

Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.

INFANTILE DYSTONIA-PARKINSONISM Is also known as dopamine transporter deficiency syndrome|ipd|pkdys|dtds

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE DYSTONIA-PARKINSONISM

Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.

SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 Is also known as dhmn6|hmn6|neuronopathy, distal hereditary motor, type vi|spinal muscular atrophy, diaphragmatic|autosomal recessive distal spinal muscular atrophy type 1|autosomal recessive spinal muscular atrophy with respiratory distress|dsma1|distal-hmn type 6|diaphr

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1

Other less relevant matches:

Combined oxidative phosphorylation deficiency-32 is an autosomal recessive neurodegenerative disorder characterized by onset of delayed psychomotor development and developmental regression in infancy. Affected individuals have multiple variable symptoms, including poor or absent speech, inability to walk, and abnormal movements. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem consistent with Leigh syndrome (OMIM ). Patient cells showed decreased activities of mitochondrial respiratory chain complexes, I, III, and IV, as well as impaired mitochondrial translation (summary by Lake et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32

Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017).

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Abnormal facial shape
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM

Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 54 Is also known as spg54

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Strabismus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 54

Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 44 Is also known as spg44

Related symptoms:

  • Seizures
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 44

Hypomyelinating leukodystrophy-12 is an autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination (summary by Edvardson et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY Is also known as vps11-related autosomal recessive hypomyelinating leukoencephalopathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Hypertension
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS

Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.

RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA Is also known as inverse recessive dystrophic epidermolysis bullosa|rdeb-i|dystrophic epidermolysis bullosa inversa|inverse rdeb

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA

Top 5 symptoms//phenotypes associated to Flexion contracture and Constipation

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Absent speech Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Hyperreflexia Muscular hypotonia of the trunk Strabismus Urinary incontinence Dysphagia Hypoplasia of the corpus callosum Intellectual disability Gastroesophageal reflux Tremor Failure to thrive Microcephaly Seizures

Rare Symptoms - Less than 30% cases

Nystagmus Renal insufficiency Pain Spastic gait Lower limb muscle weakness Intrauterine growth retardation Coarse facial features Optic atrophy Sensorineural hearing impairment Hearing impairment Scoliosis CNS hypomyelination Leukodystrophy Carious teeth Limb hypertonia Abnormality of the periventricular white matter Dysarthria Babinski sign Spastic paraplegia Muscle weakness Paraplegia Hypertonia Abnormality of eye movement Delayed myelination Intention tremor Irritability Dystonia Delayed gross motor development Cognitive impairment Dilated cardiomyopathy Urinary bladder sphincter dysfunction Slow saccadic eye movements Slurred speech Abnormality of visual evoked potentials Ankle contracture Abnormal auditory evoked potentials Squamous cell carcinoma of the skin Upper limb spasticity Abnormal vagina morphology Ankyloglossia Abnormal motor evoked potentials Abnormality of somatosensory evoked potentials Visual impairment Ventriculomegaly Cerebellar atrophy Reduced visual acuity Hepatosplenomegaly Severe global developmental delay Poor speech Leukoencephalopathy Lumbar hyperlordosis Lower limb spasticity Periventricular white matter hyperdensities Oral mucosal blisters Bowel incontinence Progressive spasticity Tongue atrophy Esophageal stricture Syringomyelia Periventricular leukomalacia Tip-toe gait Optic disc hypoplasia Contractures involving the joints of the feet Clumsiness Ataxia Skin erosion Pes cavus Difficulty walking Hyperlordosis Dysmetria Distal sensory impairment Sensory impairment Focal-onset seizure Corneal erosion Microglossia Stenosis of the external auditory canal Pulmonary infiltrates Nausea and vomiting Abnormality of the skin Pulmonary arterial hypertension Telangiectasia Skin ulcer Osteolysis Pulmonary fibrosis Telangiectasia of the skin Scleroderma Xerostomia Abnormal blistering of the skin Autoimmunity Osteolytic defects of the phalanges of the hand Oliguria Nephropathy Dyspareunia Decreased urine output Hypertensive crisis Narrow foramen obturatorium Abnormal bowel sounds Cataract Anemia Nail dystrophy Malabsorption Recurrent skin infections Narrow mouth Cerebral hypomyelination Febrile seizures Postnatal microcephaly Cerebral visual impairment Abnormal autonomic nervous system physiology Focal impaired awareness seizure Multiple joint contractures Central hypotonia Developmental stagnation Delayed CNS myelination Neurogenic bladder Diffuse white matter abnormalities Arthritis Temperature instability Oromotor apraxia Hypertension Vomiting Diarrhea Congestive heart failure Atrophic scars Milia Dyspnea Keratitis Arthralgia Weight loss Abnormality of the genital system Optic nerve hypoplasia Camptodactyly of finger Peripheral neuropathy Skeletal muscle atrophy Talipes equinovarus Respiratory insufficiency Respiratory distress Hyporeflexia Hyperhidrosis Respiratory failure Paralysis Distal muscle weakness Small for gestational age Muscular hypotonia Limb muscle weakness Abnormality of the foot Peripheral axonal neuropathy Distal amyotrophy Premature birth Decreased fetal movement Progressive muscle weakness Severe muscular hypotonia Tachypnea Decreased nerve conduction velocity Spinal muscular atrophy Motor delay Abnormality of carboxylic acid metabolism Weak cry Parkinsonism Abnormality of the cerebral white matter Clonus Oculomotor apraxia Poor head control Pneumonia Rigidity Abnormality of the eye Abnormal pyramidal sign Abnormality of movement Dyskinesia Chorea Ocular flutter Bradykinesia Involuntary movements Recurrent pneumonia Cerebral palsy Hyperkinesis Hypokinesia Limb dystonia Hypomimic face Morphological abnormality of the pyramidal tract Orofacial dyskinesia Oculogyric crisis Axonal degeneration Hypoventilation Telecanthus Thin skin Abnormal heart morphology Deeply set eye Joint laxity Camptodactyly Abnormal cardiac septum morphology Broad forehead Anal atresia Arachnodactyly Intestinal malrotation Coarctation of aorta Dental crowding Short nose Pointed chin Finger clinodactyly Short chin Cutis marmorata Long nose Narrow nose Soft skin Narrow maxilla Short stature High palate Gait disturbance Pectus excavatum Atrial septal defect Recurrent lower respiratory tract infections Ptosis EMG: neuropathic changes Degeneration of anterior horn cells Diaphragmatic eventration Diaphragmatic paralysis Inspiratory stridor Diaphragmatic weakness Nocturnal hypoventilation Peripheral axonal degeneration Ventilator dependence with inability to wean Denervation of the diaphragm Visual loss Ventricular septal defect Kyphoscoliosis Developmental regression Lethargy Inability to walk Gliosis Increased serum lactate Choreoathetosis Exotropia Increased CSF lactate Abnormal facial shape Abnormality of the skeletal system Abnormality of the anus


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