Flexion contracture, and Rhizomelia

Diseases related with Flexion contracture and Rhizomelia

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

Top matches:

Regressive spondylometaphyseal dysplasia is a rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.

REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA Is also known as regressive spondylometaphyseal dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Flexion contracture
  • Brachydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP3 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 Is also known as alkylglycerone-phosphate synthase deficiency|alkyldihydroxyacetonephosphate synthase deficiency|agps deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Spasticity


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3

Peroxisomal fatty acyl-CoA reductase-1 disorder is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. The disorder is reminiscent of rhizomelic chondrodysplasia punctata (see, e.g., RCDP1, {215100}), although the characteristic skeletal abnormalities observed in RCDP are absent (Buchert et al., 2014).

SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY Is also known as severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|severe intellectual disability-epilepsy-cataract syndrome due to far1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY

Other less relevant matches:

Low match STEEL SYNDROME

Steel syndrome is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention (summary by Flynn et al., 2010).

STEEL SYNDROME Is also known as bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome|dislocated hips and radial heads, carpal coalition, scoliosis, and short stature

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about STEEL SYNDROME

Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.

COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME Is also known as microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|microphthalmia, syndromic 14|microphthalmia-coloboma-rhizomelic skeletal dysplasia|mcops14

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Strabismus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME

While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1 ), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (OMIM ) and patients carried this diagnosis.Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.

PEROXISOME BIOGENESIS DISORDER 9B; PBD9B Is also known as refsum disease, adult, 2|peroxisome biogenesis disorder, pex7-related, atypical

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 9B; PBD9B

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 (OMIM ) is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 Is also known as chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency|gnpat deficiency|dihydroxyacetonephosphate acyltransferase deficiency|peroxisomal dihydroxyacetonephosphate acyltransferase deficiency|dhapat deficiency|gly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags.

SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME Is also known as sams syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME

Anauxetic dysplasia is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic femoral necks; hypoplastic iliac bodies and shallow acetabulae; irregular metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals with widened shafts; very short and broad phalanges with small, late-ossifying epiphyses and bullet-shaped middle phalanges; and midface hypoplasia. The number of chondrocytes is severely reduced in the resting and proliferating cartilage, with diminished columnization of the hypertrophic zone (summary by Thiel et al., 2005).Mutations in RMRP also cause 2 milder types of short stature with susceptibility to cancer, cartilage-hair hypoplasia (CHH ) and metaphyseal dysplasia without hypotrichosis (OMIM ). Genetic Heterogeneity of Anauxetic DysplasiaAnauxetic dysplasia-2 (ANXD2 ) is caused by mutation in the POP1 gene on chromosome 8q22.

ANAUXETIC DYSPLASIA 1; ANXD1 Is also known as spondyloepimetaphyseal dysplasia, anauxetic type|anxd|spondylometaepiphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, menger type|anauxetic dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about ANAUXETIC DYSPLASIA 1; ANXD1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Abnormality of the skeletal system Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cataract Prominent forehead Abnormal facial shape Skeletal dysplasia Spasticity High palate Epicanthus Wide nasal bridge Severe short stature Hypertelorism Short humerus Lumbar hyperlordosis Growth delay Hip dislocation Anteverted nares Scoliosis Hearing impairment Micrognathia Congenital cataract Hyperlordosis Feeding difficulties Platyspondyly

Rare Symptoms - Less than 30% cases

Sensorineural hearing impairment Talipes equinovarus Respiratory insufficiency Syndactyly Midface retrusion Pes planus Calcific stippling Hypotelorism Hypoplastic scapulae Hypoplastic ilia Cryptorchidism Microphthalmia Talipes Dislocated radial head Short neck Hypoplasia of the odontoid process Mandibular prognathia Shallow acetabular fossae Metaphyseal irregularity Disproportionate short stature Thoracic kyphosis Pes cavus Genu valgum Broad forehead Epiphyseal stippling Intellectual disability, severe Knee flexion contracture Ovoid vertebral bodies Camptodactyly Congenital contracture Seizures Generalized hypotonia Mild short stature Kyphosis Failure to thrive Coarse facial features Macrocephaly Brachydactyly Limited elbow extension Short toe Tetraplegia Intellectual disability, mild Hypodontia Aortic valve stenosis Hypotrichosis Kyphoscoliosis Elbow flexion contracture Metaphyseal widening Rocker bottom foot Beaking of vertebral bodies Delayed ossification of pubic rami Iliac crest serration Conductive hearing impairment Limb joint contracture Stippled calcification proximal humeral epiphyses Downslanted palpebral fissures Malar flattening Narrow mouth Multicentric ossification of proximal femoral epiphyses Deeply set eye Abnormality of the genitourinary system Anemia Atresia of the external auditory canal Proximal placement of thumb Preauricular pit Scaphocephaly Deformed sella turcica Scapulohumeral synostosis Neoplasm Flared metaphysis Small epiphyses Short finger Prominent sternum Enlargement of the costochondral junction Epiphyseal dysplasia Abnormality of pelvic girdle bone morphology Atlantoaxial instability Broad palm Thickened calvaria Narrow greater sacrosciatic notches Carpal bone hypoplasia Waddling gait Broad foot Cone-shaped epiphyses of the phalanges of the hand Shield chest Disproportionate short-trunk short stature Flat acetabular roof Spinal cord compression Barrel-shaped chest Short metatarsal Short metacarpal Metaphyseal dysplasia Atlantoaxial dislocation Flat glenoid fossa Hypoplastic iliac wing Wide pubic symphysis Delayed ossification of carpal bones Abnormal enchondral ossification Hypoplasia of the capital femoral epiphysis J-shaped sella turcica Broad phalanx Hypoplastic facial bones Cervical cord compression Cervical subluxation Hypoplastic iliac body Postnatal growth retardation Paralysis Severe global developmental delay Limitation of joint mobility Irregular vertebral endplates Cognitive impairment Large fontanelles Finger clinodactyly Clinodactyly Clinodactyly of the 5th finger Finger syndactyly Thin vermilion border Hip dysplasia Bilateral sensorineural hearing impairment Congenital hip dislocation Coxa vara Pain Bilateral talipes equinovarus Thoracic scoliosis Synostosis of carpal bones Lower limb asymmetry Acetabular dysplasia Dislocation of the femoral head Nystagmus Delayed speech and language development Progressive spastic quadriplegia Hypospadias Ptosis Ventricular septal defect Polydactyly Postaxial polydactyly Spondylometaphyseal dysplasia Thoracolumbar kyphosis Hyposegmentation of neutrophil nuclei Short femur Cerebellar atrophy Spastic tetraparesis Short nose Long philtrum Macrotia Thin upper lip vermilion Neonatal hypotonia Smooth philtrum Highly arched eyebrow Tetraparesis Strabismus Intellectual disability, moderate Osteopenia Hammertoe Retinopathy Nyctalopia Ichthyosis Polyneuropathy Progressive visual loss Sensorimotor neuropathy Anosmia Distal lower limb amyotrophy Autism Short 5th metacarpal Polyneuritis Elevated levels of phytanic acid Muscular hypotonia Depressed nasal bridge Recurrent infections High forehead Autistic behavior Rod-cone dystrophy Coloboma Sclerocornea Retinal detachment Microcornea Long eyelashes Deep philtrum Precocious puberty Chorioretinal coloboma Anophthalmia Ectopia pupillae Arrhythmia Periorbital fullness Monocular strabismus Ataxia Peripheral neuropathy Cardiomyopathy Blindness Congestive heart failure Visual loss Multicentric ossification of proximal humeral epiphyses


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