Flexion contracture, and Aganglionic megacolon

Diseases related with Flexion contracture and Aganglionic megacolon

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

Top matches:

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B ) (Oji et al., 2010).NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (OMIM ).

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11 Is also known as arih|ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis|ichthyosis with hypotrichosis, autosomal recessive|ifah

Related symptoms:

  • Flexion contracture
  • Abnormality of the dentition
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MESH MENDELIAN

More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11

Related symptoms:

  • Flexion contracture
  • Hypertension
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: MESH OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION; HCAD

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:

Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).

WAARDENBURG SYNDROME, TYPE 3; WS3 Is also known as klein-waardenburg syndrome|waardenburg syndrome, type iii|waardenburg syndrome with upper limb anomalies

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 3; WS3

Low match KID SYNDROME

Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.

KID SYNDROME Is also known as ichthyosis hystrix rheydt type|keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome|senter syndrome|kid/hid syndrome|kid syndrome, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about KID SYNDROME

X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.

GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME Is also known as goldberg-shprintzen megacolon syndrome|goshs|megacolon-microcephaly syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

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

Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Nonaxial skeletal involvement includes elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed (summary by Smith et al., 1999). Patients with a similar phenotype and fractures have been described (Malfait et al., 2013).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY Is also known as spondyloepimetaphyseal dysplasia with joint laxity, beighton type|semdjl1|semdjl|semd-jl|spondyloepimetaphyseal dysplasia with joint laxity type 1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY

Top 5 symptoms//phenotypes associated to Flexion contracture and Aganglionic megacolon

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Prominent nasal bridge Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Telecanthus Short stature Sensorineural hearing impairment Muscular hypotonia Constipation Cryptorchidism Hypertelorism Myopia Abdominal distention Atrial septal defect Ventricular septal defect Hypertension Micrognathia Joint stiffness Tapered finger Seizures Global developmental delay Talipes equinovarus Wide nasal bridge Brachydactyly Anteverted nares Abnormality of the dentition Hearing impairment Sparse and thin eyebrow Hypohidrosis Sparse hair

Rare Symptoms - Less than 30% cases

Thick vermilion border Hypopigmentation of the skin Underdeveloped nasal alae Hypopigmented skin patches Spastic paraplegia Paraplegia Synophrys Arthrogryposis multiplex congenita Sparse scalp hair Clinodactyly Vomiting Intellectual disability, severe Abnormality of the skeletal system Abdominal pain Peripheral neuropathy Blue sclerae Microcolon Portal hypertension Corneal erosion Volvulus Recurrent urinary tract infections Everted lower lip vermilion Flat face Hydronephrosis Scoliosis Midface retrusion Intestinal pseudo-obstruction Corneal ulceration Pes cavus Congenital sensorineural hearing impairment Cerebellar hypoplasia Blindness Short neck Pain Intestinal obstruction White forelock Heterochromia iridis Blue irides Carpal synostosis Premature graying of hair White hair Severe global developmental delay Failure to thrive Camptodactyly of finger Erythema Bulbous nose Scarring Abnormal autonomic nervous system physiology Palmoplantar keratoderma Photophobia Hyperkeratosis Hyperhidrosis Abnormality of cardiovascular system morphology Megacystis Absent eyebrow Umbilical hernia Low-set, posteriorly rotated ears Nail dystrophy Anonychia Narrow chest Arachnodactyly Vesicoureteral reflux Ichthyosis Round face Alopecia Hydroureter Broad forehead Abdominal situs inversus Aplasia/Hypoplasia of the abdominal wall musculature Hyperparathyroidism Decreased lacrimation Absent brainstem auditory responses Hypoplasia of the semicircular canal Myelin outfoldings Meconium ileus Neonatal asphyxia Large iliac wings Hypoplastic iliac body Hypoplasia of the cochlea Peripheral hypomyelination Short iliac bones Spotty hyperpigmentation Dysmyelinating leukodystrophy Dilatation Cupped ribs Pneumonia Ophthalmoplegia Abnormal bone ossification Abnormality of the liver Long upper lip Polyhydramnios Hip subluxation Weight loss Advanced ossification of carpal bones Long-segment aganglionic megacolon Diarrhea Myopathy Dysphagia Radial head subluxation Skeletal muscle atrophy Fever Spasmus nutans Cerebral dysmyelination Flaring of rib cage White eyebrow Hypogonadism Distal amyotrophy Abnormal pyramidal sign Distal muscle weakness Abnormality of the nervous system Neonatal hypotonia Hepatosplenomegaly Myoclonus Coma Hyporeflexia Areflexia Arrhythmia Splenomegaly Hepatomegaly Motor delay Distal sensory impairment Tetraplegia White eyelashes Congenital nystagmus Alacrima Soft, doughy skin Ileus Demyelinating peripheral neuropathy Abnormal eyebrow morphology Hypopigmentation of hair Oval face Peripheral demyelination Decreased nerve conduction velocity CNS hypomyelination Anosmia Torticollis Spastic paraparesis Leukodystrophy Spastic tetraplegia Intestinal malrotation Disproportionate tall stature Lens luxation 11 pairs of ribs Abnormality of epiphysis morphology Decreased body weight Radial bowing Mitral regurgitation Ovoid vertebral bodies Spondyloepimetaphyseal dysplasia Abnormality of the metaphysis Limb undergrowth Joint dislocation Short metacarpal Flared iliac wings Lethal skeletal dysplasia Short foot High, narrow palate Nystagmus Short palm Coxa valga Bicuspid aortic valve Micromelia Epiphyseal dysplasia Slender long bone Pathologic fracture Short femoral neck Hallux valgus Flared metaphysis Metatarsus adductus Metaphyseal widening Fragile skin Short long bone Elbow dislocation Dislocated radial head Ectopia lentis Increased susceptibility to fractures Hyperextensible skin Irregular vertebral endplates Exostoses Spinal cord compression Joint hypermobility Joint hyperflexibility Overgrowth Achalasia Barrett esophagus Broad distal phalanx of finger Urethral obstruction Prune belly Pollakisuria Urinary retention Peritonitis Chronic constipation Gastrointestinal obstruction Episodic abdominal pain Malnutrition Hypoalbuminemia External ophthalmoplegia Pancreatitis Short nail Horseshoe kidney Interphalangeal joint contracture of finger Neuroma Hypoperistalsis Genu valgum Skeletal dysplasia Platyspondyly Hip dislocation Pectus carinatum Abnormal cardiac septum morphology Hyperlordosis Joint laxity Pes planus Kyphoscoliosis Megaduodenum Proptosis Osteoporosis Prominent forehead Severe short stature Malar flattening Long philtrum Kyphosis High palate Spasticity Male pseudohermaphroditism Growth delay Carcinoma Thickened skin Fine hair Progressive visual loss Nail dysplasia Delayed eruption of teeth Carious teeth Arthritis Delayed skeletal maturation Elbow flexion contracture Visual loss Visual impairment Neoplasm Poliosis Dacryocystitis Partial albinism Narrow naris Skin ulcer Knee flexion contracture Atelectasis Hemiplegia/hemiparesis Alopecia of scalp Keratoconjunctivitis sicca Severe hearing impairment Cellulitis Macule Aplasia/Hypoplasia of the eyebrow Squamous cell carcinoma Hypoplastic toenails Conjunctivitis Keratitis Scaling skin Urticaria Reduced tendon reflexes Neoplasm of the skin Osteolysis Sparse eyelashes Bronchomalacia Vitiligo Dystrophic toenail Curly hair Generalized hypotrichosis Orthokeratosis Eclabion Subungual hyperkeratosis Congenital nonbullous ichthyosiform erythroderma Pili torti Blepharitis Sparse body hair Patent ductus arteriosus Congenital ichthyosiform erythroderma Anhidrosis Erythroderma Ectropion Brittle hair Hypotrichosis Corneal opacity Short nose Posteriorly rotated ears Sprengel anomaly Cleft lip Cutaneous finger syndactyly Albinism Scapular winging Joint contracture of the hand Anorexia Abnormality of skin pigmentation Blepharophimosis Mandibular prognathia Micropenis Syndactyly Contractures of the interphalangeal joint of the thumb Hyperconvex nail Agitation Cupped ear Status epilepticus Tachycardia Abnormal eyelash morphology Furrowed tongue Ataxia Hypospadias Finger syndactyly Short philtrum Coloboma Craniosynostosis Protruding ear Camptodactyly Macrotia Hypoplasia of the corpus callosum Thick eyebrow Ventriculomegaly Downslanted palpebral fissures Depressed nasal bridge Low-set ears Ptosis Abnormal facial shape Abnormality of the male genitalia Polymicrogyria Iris coloboma U-Shaped upper lip vermilion Progressive microcephaly Megalocornea Hypoplasia of the brainstem Bifid scrotum Sparse eyebrow Abnormality of the genitourinary system Oligodontia Pointed chin Long eyelashes Small hand Pachygyria Optic disc pallor Sloping forehead Specific learning disability Wide intermamillary distance Hypoplasia of the maxilla Highly arched eyebrow Abnormality of fontanelles Abnormal hemoglobin Hypoplastic fingernail Recurrent bacterial skin infections Optic atrophy Epicanthus Anemia Abnormality of corneal stroma Trichiasis Moderate hearing impairment Generalized hyperkeratosis Corneal scarring Depressivity Keratoconjunctivitis Squamous cell carcinoma of the skin Abnormality of the tongue Recurrent corneal erosions Corneal neovascularization Dystrophic fingernails Oral leukoplakia Behavioral abnormality Clinodactyly of the 5th finger Profound global developmental delay Hypoplasia of penis Dysphasia Self-injurious behavior Encephalitis Tented upper lip vermilion Abnormality of the face Depressed nasal ridge Thick lower lip vermilion Ambiguous genitalia Agenesis of corpus callosum Macroglossia Abnormality of movement Nausea and vomiting Feeding difficulties in infancy Abnormality of the kidney Gastroesophageal reflux Autism Cerebral cortical atrophy Delayed proximal femoral epiphyseal ossification


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