Flexion contracture, and Small for gestational age

Diseases related with Flexion contracture and Small for gestational age

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


Top matches:

Low match MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY


Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.

MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY Is also known as microcephalic primordial dwarfism, walsh type

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cataract
  • Spasticity
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY

Low match CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE


Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

Low match FETAL AKINESIA-CEREBRAL AND RETINAL HEMORRHAGE SYNDROME


Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.

FETAL AKINESIA-CEREBRAL AND RETINAL HEMORRHAGE SYNDROME Is also known as myopathy, centronuclear, lethal, autosomal recessive|lethal congenital contracture syndrome type 5|lccs5

Related symptoms:

  • Generalized hypotonia
  • Flexion contracture
  • Peripheral neuropathy
  • Respiratory insufficiency
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA-CEREBRAL AND RETINAL HEMORRHAGE SYNDROME

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Other less relevant matches:

Low match COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8

Low match NDE1-RELATED MICROHYDRANENCEPHALY


NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.

NDE1-RELATED MICROHYDRANENCEPHALY Is also known as hydranencephaly and microcephaly|mhac

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NDE1-RELATED MICROHYDRANENCEPHALY

Low match BOWEN-CONRADI SYNDROME


Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.

BOWEN-CONRADI SYNDROME Is also known as bowen syndrome, hutterite type|bowen hutterite syndrome, formerly

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BOWEN-CONRADI SYNDROME

Low match SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1


Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.

SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 Is also known as dhmn6|hmn6|neuronopathy, distal hereditary motor, type vi|spinal muscular atrophy, diaphragmatic|autosomal recessive distal spinal muscular atrophy type 1|autosomal recessive spinal muscular atrophy with respiratory distress|dsma1|distal-hmn type 6|diaphr

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1

Low match 2Q24 MICRODELETION SYNDROME


2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

Low match AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY


Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.

AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY Is also known as asd due to auts2 deficiency|auts2 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY

Top 5 symptoms//phenotypes associated to Flexion contracture and Small for gestational age

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Flexion contracture and Small for gestational age. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Seizures Short stature Failure to thrive Spasticity Intrauterine growth retardation Severe global developmental delay Short philtrum Myopathy Ventriculomegaly Motor delay Feeding difficulties Decreased fetal movement Sloping forehead Prominent nasal bridge Camptodactyly of finger Hyperreflexia

Rare Symptoms - Less than 30% cases


Muscle weakness Decreased nerve conduction velocity Thick eyebrow Postnatal growth retardation Progressive muscle weakness Pain Muscular hypotonia Elevated serum creatine phosphokinase Intellectual disability, severe Skeletal muscle atrophy Talipes equinovarus Hypertonia Peripheral neuropathy Delayed speech and language development Strabismus Autistic behavior Downslanted palpebral fissures Micrognathia Abnormality of the foot Prominent nose Interphalangeal joint contracture of finger Short chin Respiratory insufficiency Respiratory distress Areflexia Arthrogryposis multiplex congenita Camptodactyly Profound global developmental delay Brain atrophy Arachnodactyly Neonatal hypotonia Cataract Polyhydramnios Brisk reflexes Cleft palate Short palpebral fissure Short neck Denervation of the diaphragm Highly arched eyebrow Behavioral abnormality Microphthalmia Low-set, posteriorly rotated ears Thick vermilion border Coloboma Poor speech Toe syndactyly Microretrognathia Cerebral palsy Ventilator dependence with inability to wean EMG: neuropathic changes Severe muscular hypotonia Tachypnea Spinal muscular atrophy Axonal degeneration Weak cry Hypoventilation Recurrent lower respiratory tract infections Degeneration of anterior horn cells Central apnea Diaphragmatic eventration Diaphragmatic paralysis Inspiratory stridor Diaphragmatic weakness Nocturnal hypoventilation Prominent nasal tip Wide nasal base Peripheral axonal degeneration Long fingers Abnormality iris morphology Small face Esotropia Urinary incontinence Atrial septal defect Underdeveloped nasal alae Abnormality of the skeletal system Macrocephaly Low-set ears Ptosis Abnormal facial shape Long face Eczema Hypotelorism Broad-based gait Progressive microcephaly Narrow face Scoliosis Achilles tendon contracture Kyphosis Smooth philtrum Hand clenching Abnormality of the dentition Abnormal oral frenulum morphology Thick upper lip vermilion Bullet-shaped distal phalanx of the hallux Wide mouth Dysarthria Wide nasal bridge Narrow mouth Autism Synophrys Hyperactivity Brachycephaly Pes cavus Muscular hypotonia of the trunk Telecanthus Sparse hair Blepharophimosis Premature birth Clinodactyly of the 5th finger Distal amyotrophy Retinal hemorrhage Fetal akinesia sequence Overlapping fingers Oval face Congenital contracture Thin ribs Centrally nucleated skeletal muscle fibers Abnormal lower motor neuron morphology Hearing impairment Akinesia Visual impairment Hypertension Pulmonary hypoplasia Polyneuropathy Peripheral demyelination Oligohydramnios Renal hypoplasia Renal dysplasia Scaphocephaly Poor suck Abnormal renal corticomedullary differentiation Cortical gyral simplification Cerebellar atrophy Cerebral atrophy Abnormal cerebellum morphology Gliosis Delayed myelination Neuronal loss in central nervous system Choanal atresia Small cerebral cortex Respiratory insufficiency due to muscle weakness Abnormality of the cerebrum Abnormality of the cerebral cortex Abnormal neuron morphology High palate Dolichocephaly High, narrow palate Single transverse palmar crease Joint contracture of the hand Elevated serum creatinine Hypoplasia of the corpus callosum Peripheral axonal neuropathy Severe intrauterine growth retardation Feeding difficulties in infancy Joint stiffness Oral cleft Finger clinodactyly Rocker bottom foot Abnormal joint morphology Abnormal lung lobation Severe postnatal growth retardation Abnormality of cardiovascular system morphology Hyporeflexia Constipation Hyperhidrosis Respiratory failure Paralysis Distal muscle weakness Limb muscle weakness Lower limb muscle weakness Clinodactyly Cryptorchidism Hydrocephalus Pachygyria Cerebellar hypoplasia Agenesis of corpus callosum Proptosis Macrotia Generalized myoclonic seizures Spastic tetraplegia Tetraparesis Knee flexion contracture Severe hydrocephalus Intellectual disability, progressive Poor head control Hypoplasia of the brainstem Athetosis Multiple joint contractures Generalized amyotrophy Self-mutilation Hydranencephaly Decreased palmar creases



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