Flexion contracture, and Webbed neck

Diseases related with Flexion contracture and Webbed neck

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

Top matches:

Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1 Is also known as herva disease|multiple contracture syndrome, finnish type|lccs|lccs1

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1

EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 2; BRWS2

Other less relevant matches:

Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015).For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME

Low match GORDON SYNDROME

Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

SHELDON-HALL SYNDROME Is also known as arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities|sheldon-hall syndrome|shs|distal arthrogryposis type 2b|fssv|arthrogryposis multiplex congenita, distal, type 2b|freeman-sheldon syndrome variant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHELDON-HALL SYNDROME

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).

COMPLEX LETHAL OSTEOCHONDRODYSPLASIA Is also known as complex lethal osteochondrodysplasia, symoens-barnes-gistelinck type

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMPLEX LETHAL OSTEOCHONDRODYSPLASIA

Top 5 symptoms//phenotypes associated to Flexion contracture and Webbed neck

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Arthrogryposis multiplex congenita Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Short neck

Uncommon Symptoms - Between 30% and 50% cases

High palate Scoliosis Generalized hypotonia Intellectual disability Abnormal facial shape Low-set ears Muscle weakness Microcephaly Myopathy Camptodactyly Seizures Kyphoscoliosis Talipes equinovarus Pectus excavatum Adducted thumb Cleft lip Long philtrum Ventriculomegaly Global developmental delay Posteriorly rotated ears Epicanthus Cryptorchidism Elevated serum creatine phosphokinase Anteverted nares Cardiomyopathy Abnormality of the foot Facial asymmetry Cleft palate Hearing impairment Recurrent fractures

Rare Symptoms - Less than 30% cases

Motor delay Lissencephaly Pterygium Malar flattening Feeding difficulties Congenital contracture Pleural effusion Narrow mouth Mandibular prognathia Downslanted palpebral fissures Prominent nasal bridge Heterotopia Narrow face Ventricular septal defect Multiple joint contractures Joint stiffness Abnormality of the pinna Abnormality of the hip bone Clinodactyly Bulbous nose Thin upper lip vermilion Polyhydramnios Talipes Edema Dandy-Walker malformation Lumbar hyperlordosis Camptodactyly of finger Protruding ear Hyperlordosis Congenital hip dislocation Wide nasal bridge Overlapping toe Pulmonary hypoplasia Limitation of joint mobility Decreased muscle mass Distal arthrogryposis Thoracolumbar scoliosis Ulnar deviation of the hand or of fingers of the hand Telecanthus Bifid uvula Retrognathia Facial palsy Hip dislocation Micropenis Cerebellar hypoplasia Short nose Strabismus Centrally nucleated skeletal muscle fibers Pectus carinatum Triangular face Muscular dystrophy Overlapping fingers Myopathic facies Arrhythmia Brachycephaly Absent speech Knee flexion contracture Spontaneous abortion Nasal speech Fever Cataract Hypertonia Asymmetry of the ears Hand clenching Hyperpigmentation of the skin Kyphosis Long palm Long hallux Renal insufficiency Narrow palm Dental crowding Focal motor seizures Kinked brainstem Pericardial effusion Depressed nasal bridge Small earlobe Oculomotor apraxia Apraxia Slender finger Epileptic spasms Cutaneous syndactyly Slender build Aplasia/Hypoplasia of the corpus callosum Hypotelorism Scrotal hypoplasia Hyperextensibility of the finger joints Abnormality of eye movement Macrocephaly Hypermetropia Disproportionate tall stature Upslanted palpebral fissure Sparse eyebrow Behavioral abnormality Hydrocephalus Hypoplasia of the brainstem Respiratory distress Plagiocephaly Cystic hygroma Cerebellar dysplasia Long fingers Lymphedema Dilatation Hypospadias Platyspondyly Small for gestational age Hypertrophic cardiomyopathy Hydronephrosis Osteopenia Prominent forehead Intrauterine growth retardation Ascites Growth delay Mixed respiratory and metabolic acidosis Sinus tachycardia Long upper lip Congenital ptosis Diaphragmatic eventration Flat face Limb undergrowth Severe lactic acidosis Short femur Fractured radius Multiple rib fractures Beaded ribs Large fleshy ears Multiple prenatal fractures Unilateral cleft lip Decreased skull ossification Cardiomegaly Single umbilical artery Thoracic hypoplasia Flared metaphysis Disproportionate short-limb short stature Wormian bones Short ribs Hydrops fetalis Respiratory arrest Breech presentation Midface retrusion Limb muscle weakness Abnormal bleeding Muscle cramps Metabolic acidosis Joint hypermobility Tachycardia Lactic acidosis Stroke Decreased fetal movement Myalgia Proximal muscle weakness Rigidity Acidosis Hyperhidrosis Pes cavus Hypotension Broad-based gait Hyperphosphatemia Rhabdomyolysis Low hanging columella Thoracic kyphosis Malignant hyperthermia Myoglobinuria Scaphocephaly Acute kidney injury Abnormality of the sternum Shock Hyperkalemia Abnormality of the coagulation cascade Ventricular fibrillation Myotonia Deep philtrum Ventricular arrhythmia Tachypnea Tall stature Short chin Thick lower lip vermilion Highly arched eyebrow Abnormal levels of creatine kinase in blood Increased endomysial connective tissue Minicore myopathy Mitochondrial depletion Sensorineural hearing impairment Microphthalmia Abnormal heart morphology Agenesis of corpus callosum Wide mouth Coloboma Oral cleft Wide nose Pachygyria Cleft soft palate Postnatal microcephaly Pointed chin Trigonocephaly Long palpebral fissure Retinal coloboma Hypertension Falls Everted lower lip vermilion Underdeveloped nasal alae Low posterior hairline Frequent falls Bilateral ptosis Mild short stature Left ventricular noncompaction Ankle contracture Fused cervical vertebrae Hypoplasia of the musculature Skeletal muscle atrophy Low-set, posteriorly rotated ears Abnormality of the ribs Abnormal form of the vertebral bodies Abnormality of the thorax Spinal muscular atrophy Akinesia Slender long bone Abnormality of the elbow Fetal akinesia sequence Abnormal cortical bone morphology Amniotic constriction ring Abnormality of the amniotic fluid Difficulty running Abnormality of the spinal cord Widening of cervical spinal canal Paucity of anterior horn motor neurons Atrial septal defect Congestive heart failure Neonatal hypotonia Abnormal cardiac septum morphology Dilated cardiomyopathy Generalized muscle weakness Radioulnar synostosis Congenital muscular dystrophy Calf muscle hypertrophy Difficulty climbing stairs Nemaline bodies Acetabular dysplasia Intellectual disability, profound Myoclonus Trismus Calcaneovalgus deformity Ulnar deviation of the wrist Prominent nasolabial fold Round ear Absent phalangeal crease Muscular hypotonia Cognitive impairment Delayed speech and language development Dysarthria Myopia Gait disturbance Osteoporosis Ulnar deviation of finger Difficulty walking Intellectual disability, moderate Short philtrum Synophrys Abnormality of movement Smooth philtrum Arachnodactyly Unsteady gait High, narrow palate Postural instability Generalized myoclonic seizures Wide intermamillary distance High myopia Aplasia/Hypoplasia of the radius Tarsal synostosis Cervical C2/C3 vertebral fusion Abnormal vertebral morphology Limitation of neck motion Intellectual disability, mild Syndactyly Clinodactyly of the 5th finger Deeply set eye Retinopathy Finger syndactyly Ophthalmoplegia Abnormality of skin pigmentation Single transverse palmar crease Interphalangeal joint contracture of finger Short phalanx of finger Bilateral talipes equinovarus Abnormality of the ear Cutaneous finger syndactyly Submucous cleft hard palate Down-sloping shoulders Abnormality of the rib cage Decreased hip abduction Camptodactyly of toe Severe short stature Bilateral single transverse palmar creases Narrow palpebral fissure Rocker bottom foot Metatarsus adductus Mildly elevated creatine phosphokinase Vertebral segmentation defect Decreased fibular diameter


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Deeply set eye, related diseases and genetic alterations Lymphoma and Osteoporosis, related diseases and genetic alterations High palate and Delayed puberty, related diseases and genetic alterations