Intrauterine growth retardation, and Congenital muscular dystrophy

Diseases related with Intrauterine growth retardation and Congenital muscular dystrophy

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Congenital muscular dystrophy that can help you solving undiagnosed cases.

Top matches:

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Other less relevant matches:

Medium match IMAGE SYNDROME

IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Medium match NEU-LAXOVA SYNDROME

Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.

NEU-LAXOVA SYNDROME Is also known as neu-laxova syndrome|3-phosphoglycerate dehydrogenase deficiency, neonatal form|nls

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME

Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.

CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION Is also known as mdcl|lmna-related congenital muscular dystrophy|l-cmd

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Congenital muscular dystrophy

Symptoms // Phenotype % cases
Muscular dystrophy Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Congenital muscular dystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Cleft palate

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability

Common Symptoms - More than 50% cases

Flexion contracture

Uncommon Symptoms - Between 30% and 50% cases

Myopathy

Common Symptoms - More than 50% cases

Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases

Skeletal muscle atrophy

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Cataract

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Low-set ears Cerebellar hypoplasia Cryptorchidism Abnormal facial shape Muscle weakness Dandy-Walker malformation Motor delay Microphthalmia Agenesis of corpus callosum Feeding difficulties Talipes equinovarus Polyhydramnios Micrognathia Arthrogryposis multiplex congenita Elevated serum creatine phosphokinase Hydrocephalus Areflexia Hypertelorism Aplasia/Hypoplasia involving the skeletal musculature Pachygyria Clinodactyly Lissencephaly Short neck Frontal bossing Epicanthus Intellectual disability, severe Hypoplasia of the brainstem Absent septum pellucidum Ambiguous genitalia Submucous cleft hard palate Talipes Short stature Abnormality of the cerebellar vermis Muscle cramps Decreased fetal movement Limb-girdle muscular dystrophy Postnatal growth retardation Micropenis Depressed nasal bridge Hypospadias Macrocephaly Short nose Polymicrogyria Abnormality of cardiovascular system morphology Hydronephrosis Myopia Congenital cataract Ventricular septal defect Respiratory insufficiency Gait disturbance Spinal rigidity Abnormality of the pinna Glaucoma Posteriorly rotated ears Bifid uvula Strabismus Brachycephaly

Rare Symptoms - Less than 30% cases

Congenital hip dislocation Short palpebral fissure Hearing impairment Generalized muscle weakness Cognitive impairment EMG abnormality Holoprosencephaly Proximal muscle weakness Aplasia/Hypoplasia of the corpus callosum Kyphoscoliosis Generalized amyotrophy Multicystic kidney dysplasia Transposition of the great arteries Fatigue Mask-like facies Hyperlordosis Delayed skeletal maturation Blepharophimosis Depressed nasal ridge Sloping forehead Renal agenesis Pulmonary hypoplasia Camptodactyly Retrognathia Failure to thrive Kyphosis Abnormality of the skeletal system High palate Premature chromatid separation Rhabdomyosarcoma Severe intrauterine growth retardation Acute lymphoblastic leukemia Nephroblastoma Hypogonadism Joint contracture of the hand Respiratory tract infection Craniosynostosis Micromelia Growth hormone deficiency Bilateral cryptorchidism Adrenal insufficiency Attention deficit hyperactivity disorder Myelodysplasia Neoplasm Anteverted nares Long philtrum Dolichocephaly Small for gestational age Wide nose High forehead Generalized tonic-clonic seizures Optic atrophy Hyporeflexia Intellectual disability, profound Cerebellar vermis hypoplasia Encephalocele Cleft lip Renal dysplasia Proptosis Macrogyria Severe muscular hypotonia Abnormal levels of creatine kinase in blood Dilatation Hypoglycosylation of alpha-dystroglycan Congenital contracture Abnormal cortical gyration Abnormality of neuronal migration Buphthalmos Cerebellar dysplasia Type II lissencephaly Cerebellar cyst Delayed speech and language development Retinal dysplasia Agyria Atrial septal defect Specific learning disability EEG abnormality Hypoplasia of the corpus callosum Retinal detachment Pectus excavatum Corneal opacity Apnea Neonatal hypotonia Abnormality of the cerebral white matter Cleft upper lip Hip dislocation Camptodactyly of finger Abnormality of nervous system morphology Generalized edema Lack of skin elasticity Trismus Abnormal eyelid morphology Broad foot Joint stiffness Aggressive behavior Abnormality of the kidney Ptosis Hydranencephaly Absent eyelashes Yellow subcutaneous tissue covered by thin, scaly skin Inguinal hernia Type III lissencephaly Abnormality of limbs Ablepharon Short umbilical cord Small placenta Narrow mouth Choroid plexus cyst Bifid uterus Abnormal nasolacrimal system morphology Abnormality of the philtrum Calcaneovalgus deformity Hyperactivity Severe short stature Patent foramen ovale Abnormality of the mouth Wide mouth Thick vermilion border Coloboma Ichthyosis Toe syndactyly Finger syndactyly Abnormal cardiac septum morphology Retinopathy Ectodermal dysplasia Microtia Osteopenia Macrotia Osteoporosis Patent ductus arteriosus Syndactyly Edema Everted lower lip vermilion Abnormality of the skin Abnormal eyelash morphology Ectropion Osteomalacia External genital hypoplasia Prominent occiput Opisthotonus Rocker bottom foot Radial deviation of finger Large hands Rickets Protruding ear Pectus carinatum Pterygium Spina bifida Abnormality of the hair Thick lower lip vermilion Limb undergrowth Cerebral calcification Blindness Dilated cardiomyopathy Arachnodactyly Aplasia/Hypoplasia of the cerebellum Duodenal atresia Abnormality of the skull Abnormal lung lobation Abnormality of immune system physiology Multiple cafe-au-lait spots Atrioventricular canal defect Colon cancer Abnormality of vision Intestinal polyposis Sleep apnea Aortic regurgitation Microretrognathia Osteolysis Finger clinodactyly Cafe-au-lait spot Rhizomelia Coarctation of aorta Abnormality of the upper limb Subvalvular aortic stenosis Ascites Joint hyperflexibility Limb-girdle muscle weakness Neck muscle weakness Cachexia Poor head control Respiratory insufficiency due to muscle weakness Myocardial infarction Limitation of joint mobility Abnormality of the foot Stomach cancer Limb muscle weakness Narrow chest Arrhythmia Congestive heart failure Vaginal neoplasm Epidermoid cyst Increased nuchal translucency Abnormal aortic morphology Triangular face Bulbous nose High, narrow palate Pyloric stenosis Abnormality of the sternum Decreased muscle mass Hydroureter Dextrocardia Metatarsus adductus Myotonia Radioulnar synostosis Abnormality of the urinary system Distal arthrogryposis Renal hypoplasia/aplasia Situs inversus totalis Wide anterior fontanel Abnormality of the face Abnormal form of the vertebral bodies Renal hypoplasia Interphalangeal joint contracture of finger Peripheral demyelination Restlessness Colpocephaly Long face Downslanted palpebral fissures Abnormality of skin pigmentation Abnormality of the eye Low-set, posteriorly rotated ears Deeply set eye Hypothyroidism Clinodactyly of the 5th finger Abnormal heart morphology Intellectual disability, mild Abnormal anatomic location of the heart Abnormality of the upper urinary tract Fixed facial expression Inferior vermis hypoplasia Zollinger-Ellison syndrome Abnormality of the penis Congenital ptosis Limb joint contracture Epispadias Primitive reflex Anal atresia Combined immunodeficiency Oral cleft Minicore myopathy Peters anomaly Muscle fiber splitting Prominent forehead Excessive daytime sleepiness Remnants of the hyaloid vascular system Sensorineural hearing impairment Posterior fossa cyst Stooped posture Abnormality of the optic nerve Generalized limb muscle atrophy Skeletal myopathy Type 1 muscle fiber predominance Nemaline bodies Malignant hyperthermia Centrally nucleated skeletal muscle fibers Myopathic facies Aqueductal stenosis Bilateral sensorineural hearing impairment Meningoencephalocele Primary adrenal insufficiency Spasticity Pain Ataxia Megalocornea Congenital adrenal hypoplasia Metaphyseal cupping Adrenal hypoplasia Metaphyseal dysplasia Abnormality of the genital system Bilateral cleft lip Epiphyseal dysplasia Hypercalcemia Hypercalciuria Short long bone Nephrocalcinosis Hypocalcemia Ophthalmoparesis Metatarsus valgus Dysarthria Knee flexion contracture Cortical dysplasia Respiratory distress Multiple joint contractures Calf muscle hypertrophy Increased variability in muscle fiber diameter Skeletal muscle hypertrophy Plagiocephaly Hemivertebrae Weak cry Rigidity Bradycardia Preauricular skin tag Brain atrophy Abnormal cerebellum morphology Pulmonic stenosis Hypermetropia Visual impairment Atrophy/Degeneration affecting the brainstem Facial palsy Fever Hypertrophic cardiomyopathy Severe hydrocephalus Pes planus Abnormal lactate dehydrogenase activity Cardiomyopathy Chorioretinal dysplasia Hypoplastic male external genitalia Thick cerebral cortex Anencephaly Abnormal aldolase level Hypoplasia of the pyramidal tract Cephalocele Thoracic hemivertebrae Exaggerated startle response Myocardial fibrosis Ankle contracture Hepatomegaly Tremor Hypodysplasia of the corpus callosum Optic nerve hypoplasia Leukemia Feeding difficulties in infancy Heterotopia Upslanted palpebral fissure Midface retrusion Immunodeficiency Malar flattening Atresia of the external auditory canal Renal cyst Wide nasal bridge Anophthalmia Nystagmus Exophoria Cerebral white matter atrophy Intellectual disability, borderline Right ventricular dilatation Severe global developmental delay Generalized myoclonic seizures Muscle fiber atrophy Acute leukemia Embryonal rhabdomyosarcoma Iris coloboma Cerebral hypoplasia Triangular mouth Retinal dystrophy Short sternum Mild microcephaly Multiple renal cysts Amenorrhea Microcornea Bifid scrotum Hypoplasia of penis Sarcoma Hyperpigmentation of the skin Primary amenorrhea Oligohydramnios Alacrima Recurrent ear infections Cerebellar atrophy Myalgia Abnormality of movement Poor speech Carious teeth Congenital glaucoma Occipital encephalocele Abnormality of the liver Retinal atrophy Elevated hepatic transaminase Inability to walk Difficulty walking Hyperkeratosis Cerebral cortical atrophy Constipation Absent speech Cerebral atrophy Dystonia Unsteady gait Hepatic steatosis Speech apraxia CNS hypomyelination Achalasia Esophagitis Progressive proximal muscle weakness Restrictive ventilatory defect Athetosis Impulsivity Gowers sign Infantile muscular hypotonia Chorea Scapular winging Truncal ataxia Lower limb spasticity Apraxia Generalized-onset seizure Hip dysplasia Focal-onset seizure Waddling gait Axial muscle weakness


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