Intrauterine growth retardation, and Muscular dystrophy

Diseases related with Intrauterine growth retardation and Muscular dystrophy

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

Top matches:

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

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

Other less relevant 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

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

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

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

Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.

ÅLAND ISLANDS EYE DISEASE Is also known as aied|forsius-eriksson type ocular albinism|forsius-eriksson syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Myopia
  • Blindness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ÅLAND ISLANDS EYE DISEASE

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Cataract

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Ventriculomegaly

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

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

Rare Symptoms - Less than 30% cases

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


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