Flexion contracture, and Retrognathia

Diseases related with Flexion contracture and Retrognathia

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

Top matches:

Related symptoms:

  • Flexion contracture
  • Talipes equinovarus
  • Polyhydramnios
  • Retrognathia
  • Camptodactyly


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 11; LCCS11

SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).

AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME Is also known as slc35a3-cdg

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME

Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by Agrawal et al., 2014).For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Flexion contracture
  • High palate
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CENTRONUCLEAR, 5; CNM5

Other less relevant matches:

MARCH is an autosomal recessive lethal congenital disorder characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis. Affected fetuses either die in utero or shortly after birth, and show arthrogryposis and features consistent with anhydramnios. Histologic examination of residual brain tissue shows multinucleated neurons resulting from impaired cytokinesis (summary by Frosk et al., 2017).

MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME Is also known as hydranencephaly with renal aplasia-dysplasia|march syndrome

Related symptoms:

  • Flexion contracture
  • Talipes equinovarus
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME

CLASSIC MULTIMINICORE MYOPATHY Is also known as classic multiminicore disease|classic mmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC MULTIMINICORE MYOPATHY

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

AMCNMY is an autosomal recessive severe neurologic disorder with onset in utero. Most affected individuals die in utero or are subject to pregnancy termination because of lack of fetal movements and prenatal evidence of contractures of virtually all joints. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect (summary by Xue et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT; AMCNMY

Congenital myasthenic syndrome-19 is an autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency. Patients present with hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable (summary by Logan et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone FracturesSee also SMABF2 (OMIM ), caused by mutation in the ASCC1 gene (OMIM ) on chromosome 10q22.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

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

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
High palate Uncommon - Between 30% and 50% cases
Arthrogryposis multiplex congenita Uncommon - Between 30% and 50% cases
Microretrognathia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Pulmonary hypoplasia Seizures Motor delay Areflexia Micrognathia Talipes equinovarus Poor head control

Rare Symptoms - Less than 30% cases

Muscle fiber atrophy Narrow mouth Congestive heart failure Finger clinodactyly Cardiomyopathy Low-set ears Cryptorchidism Facial palsy Spinal rigidity Muscle weakness Severe muscular hypotonia Centrally nucleated skeletal muscle fibers Hip contracture Axial muscle weakness Oligohydramnios Generalized amyotrophy Hypertelorism Respiratory insufficiency Feeding difficulties Intellectual disability, severe Strabismus Camptodactyly Decreased fetal movement Congenital contracture Akinesia Ptosis Fetal akinesia sequence Intellectual disability Microcephaly Scoliosis Short stature Hip dysplasia Small hand Patent ductus arteriosus Pes cavus Generalized muscle weakness Scapular winging Nystagmus Chronic lung disease Recurrent lower respiratory tract infections Bulbar palsy Exercise intolerance Knee flexion contracture Abnormal lung morphology Pectus carinatum Esotropia Elbow flexion contracture Dental crowding Joint laxity Rigidity Ankle contracture Gastroesophageal reflux Distal arthrogryposis Narrow forehead Internally rotated shoulders Protruding ear Dyspnea Adducted thumb Spasticity Premature birth Peripheral neuropathy Skeletal muscle atrophy Dysphagia Respiratory distress Respiratory failure Abnormal cardiac septum morphology Peripheral axonal neuropathy Hypohidrosis Esodeviation Patent foramen ovale Spinal muscular atrophy Neonatal respiratory distress Increased variability in muscle fiber diameter Axonal loss Secundum atrial septal defect Diaphragmatic eventration Fractures of the long bones Flexion contracture of thumb Oxycephaly Hyperreflexia Coarse facial features Short neck Hydrocephalus Hypertonia Hyporeflexia Babinski sign Agenesis of corpus callosum Micropenis Joint stiffness Visceromegaly Spastic paraplegia Holoprosencephaly Increased intracranial pressure Unilateral cryptorchidism Bilateral cryptorchidism Hemiplegia/hemiparesis Absent septum pellucidum Aqueductal stenosis Penoscrotal hypospadias Increased muscle lipid content Melanocytic nevus Dilated cardiomyopathy Renal dysplasia Renal hypoplasia Renal agenesis Renal cyst Single transverse palmar crease Talipes Toe syndactyly Polydactyly Cerebellar hypoplasia Clinodactyly of the 5th finger Clinodactyly Syndactyly Bifid uvula Ophthalmoplegia Neonatal hypotonia 2-3 toe syndactyly Autistic behavior Polyhydramnios Bilateral talipes equinovarus Muscular hypotonia Intellectual disability, mild Autism Intellectual disability, moderate Camptodactyly of finger Elevated serum creatine phosphokinase Hip dislocation Absence seizures Hammertoe Knee dislocation Atypical absence seizures Myopathy Hypoplasia of the brainstem Cystic hygroma Pterygium Hypospadias Limited neck flexion Weakness of facial musculature Intermittent episodes of respiratory insufficiency due to muscle weakness Absent muscle fiber merosin Macrocephaly Frontal bossing Delayed skeletal maturation Right ventricular failure Prominent forehead Feeding difficulties in infancy Triangular face Ambiguous genitalia Decreased body weight Relative macrocephaly Nocturnal hypoventilation Restrictive deficit on pulmonary function testing Broad palm Failure to thrive Redundant neck skin Hydranencephaly Narrow nasal ridge Limb joint contracture Potter facies Ureteral agenesis Mandibular prognathia Right ventricular hypertrophy Pes planus Mitral valve prolapse Delayed gross motor development Congenital muscular dystrophy Multiple joint contractures High pitched voice Multiple prenatal fractures


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Facial asymmetry, related diseases and genetic alterations Obesity and Hodgkin lymphoma, related diseases and genetic alterations Obesity and Paraplegia, related diseases and genetic alterations