Abnormal facial shape, and Arthrogryposis multiplex congenita

Diseases related with Abnormal facial shape and Arthrogryposis multiplex congenita

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Arthrogryposis multiplex congenita that can help you solving undiagnosed cases.


Top matches:

Medium match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2

Medium match TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME


TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME Is also known as distal arthrogryposis type 7|hecht-beals syndrome|mouth, inability to open completely, and short finger-flexor tendons|trismus-pseudocamptodactyly syndrome|hecht syndrome|dutch-kentucky syndrome

Related symptoms:

  • Short stature
  • Micrognathia
  • Abnormal facial shape
  • Ptosis
  • Feeding difficulties


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME

Medium match LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7


Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7

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Other less relevant matches:

Medium match MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME


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

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55


Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55 Is also known as spg55

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55

Medium match MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG (OMIM ) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C Is also known as cms id, formerly|myasthenia, familial infantile, 1, formerly|myasthenic syndrome, congenital, type id|cms1d, formerly|fim1, formerly

Related symptoms:

  • Generalized hypotonia
  • Strabismus
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C

Medium match BRUCK SYNDROME


Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.

BRUCK SYNDROME Is also known as osteogenesis imperfecta with congenital joint contractures|osteogenesis imperfecta-congenital joint contractures syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Talipes equinovarus
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRUCK SYNDROME

Medium match LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9


Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

Medium match MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17


Autosomal recessive primary microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time (up to -12 SD). Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum (summary by Harding et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17

Medium match MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly|myasthenic syndrome, congenital, ie, formerly|cms ie, formerly

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Arthrogryposis multiplex congenita

Symptoms // Phenotype % cases
Flexion contracture Uncommon - Between 30% and 50% cases
Talipes equinovarus Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Arthrogryposis multiplex congenita. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Talipes Decreased fetal movement Cerebellar hypoplasia Mandibular prognathia Respiratory failure Muscle weakness Feeding difficulties Ptosis Short stature Hypertonia Hypertelorism Microcephaly Generalized hypotonia Growth delay Intrauterine growth retardation

Rare Symptoms - Less than 30% cases


Spasticity Skeletal muscle atrophy Hyperreflexia Scoliosis Respiratory insufficiency Myopathy Lissencephaly Pterygium Polyhydramnios Agenesis of corpus callosum Renal agenesis Bilateral talipes equinovarus Pulmonary hypoplasia Low-set ears Weak cry Strabismus Fatigable weakness Triangular face Wide nasal bridge Dysphagia Hypoplasia of the brainstem High palate Hypoplasia of the corpus callosum Gowers sign Easy fatigability Muscle cramps Long face Dental malocclusion Camptodactyly Syndactyly Osteoporosis Osteopenia Muscular hypotonia Joint stiffness Dysarthria Tibialis muscle weakness Pectus carinatum Platyspondyly Recurrent fractures Motor delay Facial palsy Fatigue Inguinal hernia Hernia Kyphosis Proximal muscle weakness Abnormality of the immune system Limb muscle weakness Respiratory insufficiency due to muscle weakness Ophthalmoparesis Decreased size of nerve terminals EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Type 2 muscle fiber atrophy Limb-girdle muscle weakness Decreased muscle mass Anteverted nares Bowing of the long bones Respiratory distress Muscular hypotonia of the trunk Poor speech Bulbous nose Thick vermilion border Sloping forehead Cortical gyral simplification Limb hypertonia Decreased head circumference Neonatal hypotonia Ventriculomegaly Apnea Respiratory tract infection Falls Generalized muscle weakness Frequent falls Narrow palpebral fissure Poor suck Multiple joint contractures Macrotia Failure to thrive Elbow flexion contracture Kyphoscoliosis Wormian bones Knee flexion contracture Increased susceptibility to fractures Femoral bowing Hydroxyprolinuria Depressed nasal bridge Hypertension Axonal regeneration Thin upper lip vermilion Short umbilical cord Joint contracture of the hand Adducted thumb Congenital contracture Ankylosis Cardiorespiratory arrest Preeclampsia Ulnar deviation of the hand Thoracic kyphoscoliosis Abnormality of the diaphragm Focal white matter lesions Peripheral axonal neuropathy Decreased sensory nerve conduction velocity Areflexia Distal arthrogryposis Trismus Symphalangism affecting the phalanges of the hand Cutaneous syndactyly of toes Calcaneovalgus deformity Tall chin Pain Short neck Hirsutism Short finger Full cheeks Lymphedema Centrally nucleated skeletal muscle fibers Hand clenching Agyria Clinodactyly Clinodactyly of the 5th finger Polydactyly Abnormality of the musculature Mild short stature Single transverse palmar crease Fetal akinesia sequence Absent speech Polymicrogyria Small hand Tetraplegia Spastic tetraplegia Akinesia Cortical dysplasia Severe intrauterine growth retardation Perisylvian polymicrogyria Metatarsus adductus Macrocephaly Hip dislocation Abnormality of the foot Facial asymmetry Limitation of joint mobility Hip dysplasia Cutaneous syndactyly Deep philtrum Hammertoe Toe syndactyly Renal cyst Progressive distal muscle weakness Fasciculations Spastic paraplegia Ophthalmoplegia Paraplegia Lower limb muscle weakness Distal sensory impairment Sensory impairment Lower limb spasticity Clonus Foot dorsiflexor weakness Distal muscle weakness Paraparesis Spastic paraparesis Steppage gait Scotoma Onion bulb formation Optic neuropathy Central scotoma Upper limb muscle weakness Poor fine motor coordination Abnormal pyramidal sign Difficulty walking Oligohydramnios Hydranencephaly Renal hypoplasia Renal dysplasia Finger clinodactyly Microretrognathia 2-3 toe syndactyly Cystic hygroma Broad palm Redundant neck skin Narrow nasal ridge Reduced visual acuity Limb joint contracture Potter facies Ureteral agenesis Nystagmus Cognitive impairment Peripheral neuropathy Optic atrophy Intellectual disability, mild Babinski sign Prominent occiput



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