Skeletal muscle atrophy, and Congenital diaphragmatic hernia

Diseases related with Skeletal muscle atrophy and Congenital diaphragmatic hernia

In the following list you will find some of the most common rare diseases related to Skeletal muscle atrophy and Congenital diaphragmatic hernia that can help you solving undiagnosed cases.


Top matches:

Low match MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS


Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (OMIM ) and nonlethal (Escobar) types.

MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS Is also known as escobar syndrome|multiple pterygium syndrome|pterygium syndrome|multiple pterygium syndrome, nonlethal type|pterygium colli syndrome|pterygium universale

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS

Low match EHLERS-DANLOS SYNDROME, PROGEROID TYPE


Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

Low match HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY; HHRRD


Humerofemoral hypoplasia with radiotibial ray deficiency is a severe dysostosis characterized by reduction of all 4 limbs as well as hypoplasia of the upper limb girdle and pelvis. Rudimentary finger- or toe-like appendages may be present (Szenker-Ravi et al., 2018).

HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY; HHRRD Is also known as hfhrtrd

Related symptoms:

  • Flexion contracture
  • Talipes equinovarus
  • Hernia
  • Congenital diaphragmatic hernia
  • Pterygium


SOURCES: OMIM MENDELIAN

More info about HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY; HHRRD

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Other less relevant matches:

Low match ISOLATED COMPLEX I DEFICIENCY


Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Low match PERLMAN SYNDROME


Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

Low match SOTOS SYNDROME 3; SOTOS3


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Low match LETHAL MULTIPLE PTERYGIUM SYNDROME


Lethal multiple pterygium syndrome (LMPS) is a rare association of anomalies of the skin, muscles and skeleton.

LETHAL MULTIPLE PTERYGIUM SYNDROME Is also known as lmps|pterygium syndrome, multiple, lethal type|autosomal recessive lethal multiple pterygium syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL MULTIPLE PTERYGIUM SYNDROME

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 1A


CHARCOT-MARIE-TOOTH DISEASE TYPE 1A Is also known as cmt1a|microduplication 17p12|charcot-marie-tooth neuropathy, type 1f

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 1A

Low match GNE MYOPATHY


GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.

GNE MYOPATHY Is also known as nonaka myopathy|ibm2|distal myopathy, nonaka type|hibm2|dmrv|distal myopathy with rimmed vacuoles|hereditary inclusion body myopathy type 2|quadriceps-sparing myopathy|inclusion body myopathy type 2

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MENDELIAN

More info about GNE MYOPATHY

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Congenital diaphragmatic hernia

Symptoms // Phenotype % cases
Hernia Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Skeletal muscle atrophy and Congenital diaphragmatic hernia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Micrognathia Low-set ears Flexion contracture Epicanthus Hypertelorism Talipes equinovarus Macrocephaly Kyphoscoliosis Seizures Growth delay Muscle weakness Pterygium Inguinal hernia Muscular hypotonia Cardiomegaly Edema Polyhydramnios Scoliosis Ptosis Myopathy Respiratory distress Hepatomegaly Hearing impairment Global developmental delay

Rare Symptoms - Less than 30% cases


Abnormal pyramidal sign Visceromegaly Areflexia Cardiomyopathy Limb muscle weakness Renal insufficiency Hypoplastic heart Cerebellar atrophy Macroglossia Multiple pterygia Tall stature Failure to thrive Proptosis Large for gestational age Nephroblastoma Hypertrophic cardiomyopathy Muscular hypotonia of the trunk Enlarged kidney Agenesis of corpus callosum Feeding difficulties in infancy Prominent forehead Motor delay Hyporeflexia Abnormality of cardiovascular system morphology Midface retrusion Joint dislocation Flat face Wide nasal bridge Depressed nasal bridge Premature birth Short stature Accelerated skeletal maturation Neoplasm Hypothyroidism Short neck Respiratory insufficiency Hypospadias Pectus excavatum Narrow mouth Umbilical hernia Global brain atrophy Abnormality of the kidney Talipes Intrauterine growth retardation Long face Pulmonary hypoplasia Abnormality of pancreas morphology Arachnodactyly Hypoglycemia Wide anterior fontanel Neurodevelopmental delay Vertebral fusion Peripheral neuropathy Nephroblastomatosis Polysplenia Broad alveolar ridges Autism Hyperactivity Pancreatic islet-cell hyperplasia Hamartoma Intestinal atresia Obesity Splenomegaly Prominent xiphoid process Femoral hernia Capillary hemangioma Thick upper lip vermilion Distal ileal atresia Abnormality of upper lip Ileal atresia Renal neoplasm Fetal ascites Interrupted aortic arch Long upper lip Nephrogenic rest Renal hamartoma Hypoplasia of the abdominal wall musculature Naevus flammeus of the eyelid Lumbar scoliosis Thymus hyperplasia Thickened helices Hypoxemia Volvulus Status epilepticus Hyperinsulinemia Cardiogenic shock Cerebral atrophy Short nose Anteverted nares Exercise-induced lactic acidemia Acute necrotizing encephalopathy Abnormal mitochondria in muscle tissue Congenital lactic acidosis Necrotizing encephalopathy Progressive macrocephaly Macrovesicular hepatic steatosis High forehead Infantile encephalopathy Biventricular hypertrophy Axial dystonia Decreased activity of mitochondrial respiratory chain Stiff neck Acute pancreatitis Cerebral edema Severe lactic acidosis Corpus callosum atrophy Wolff-Parkinson-White syndrome Posteriorly rotated ears Retrognathia Polycystic kidney dysplasia Overgrowth Growth abnormality Tented upper lip vermilion Bilateral single transverse palmar creases Hepatic fibrosis Renal dysplasia Open mouth Coarse facial features Lumbar hyperlordosis Hypoplasia of penis Abnormality of the cardiovascular system Specific learning disability Hepatosplenomegaly Round face Abdominal distention Ascites High, narrow palate Smooth philtrum Dolichocephaly Abnormality of the pinna Hyperlordosis Hydronephrosis Deeply set eye Mandibular prognathia Gonadoblastoma Wide mouth Onion bulb formation Shoulder pain Myelin outfoldings Axonal regeneration Decreased sensory nerve conduction velocity Segmental peripheral demyelination/remyelination Diaphragmatic weakness Progressive peripheral neuropathy Sensory ataxia Gait imbalance Demyelinating peripheral neuropathy Hyperactive deep tendon reflexes Decreased number of peripheral myelinated nerve fibers Spontaneous pain sensation Calf muscle hypertrophy Decreased motor nerve conduction velocity Infantile muscular hypotonia Sensory impairment Distal sensory impairment Distal amyotrophy Paresthesia Distal muscle weakness Pes cavus Gait disturbance Abnormal cervical curvature Amyoplasia Acute demyelinating polyneuropathy Clusters of axonal regeneration Meningocele Shoulder girdle muscle atrophy EMG: myotonic discharges EMG: positive sharp waves Abnormality of the foot musculature Muscle fiber inclusion bodies Hip flexor weakness Limited wrist extension Tibialis muscle weakness Quadriceps muscle weakness Limited shoulder movement Weakness of long finger extensor muscles Fatty replacement of skeletal muscle Lower limb amyotrophy Elevated serum creatine phosphokinase Absent Achilles reflex Shoulder girdle muscle weakness Rimmed vacuoles Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Steppage gait EMG: myopathic abnormalities Scapular winging Foot dorsiflexor weakness Lower limb muscle weakness Facial palsy Dementia Fetal akinesia sequence Malignant hyperthermia Neurological speech impairment Prominent occiput Ureteral duplication Nemaline bodies Hemihypertrophy Diastasis recti Multiple renal cysts Nevus flammeus Neonatal hypoglycemia Exocrine pancreatic insufficiency Prominent metopic ridge Polycythemia Neuroblastoma Melanocytic nevus Otosclerosis Redundant skin Hypercalciuria Relative macrocephaly Arnold-Chiari malformation Sleep apnea Nephrolithiasis Large fontanelles Omphalocele Prominent nose Vesicoureteral reflux Nephropathy Poor speech Rhabdomyosarcoma Pseudohypoparathyroidism Thin ribs Congenital megaureter Cystic hygroma Short finger Akinesia Increased susceptibility to fractures Lymphedema Depressed nasal ridge Fever Microcephaly Subchorionic septal cyst Large intestinal polyposis Abnormality of the shape of the midface Adrenocortical cytomegaly Large placenta Abnormality of earlobe Posterior helix pit Branchial cyst Infra-orbital crease Adrenocortical carcinoma Facial hemangioma Urogenital fistula Leiomyosarcoma Elevated alpha-fetoprotein Hepatoblastoma Anterior creases of earlobe Choroideremia Asymmetric growth Increased CSF lactate Gliosis Aspiration pneumonia Pectus carinatum Single transverse palmar crease Bruising susceptibility Joint hypermobility Abnormality of skin pigmentation Joint hyperflexibility Pulmonic stenosis Narrow chest Hypermetropia Broad forehead Microtia Scarring Bifid uvula Telecanthus Joint laxity Abnormality of the nervous system Pes planus Skeletal dysplasia Osteopenia Osteoporosis Severe short stature Alopecia Intellectual disability, mild Triangular face Nevus Dysplastic patella Radioulnar synostosis Genu recurvatum Short clavicles Proportionate short stature Curly hair Atrophic scars Bowing of the legs Bilateral cryptorchidism Elbow dislocation Sparse eyebrow Lipodystrophy Hyperextensible skin Blue sclerae Cutis laxa Sparse eyelashes Coxa valga Elbow flexion contracture Aortic valve stenosis Sparse and thin eyebrow Bowing of the long bones Thin skin Sparse scalp hair Fine hair Cutaneous photosensitivity Abnormality of the dentition Anterior clefting of vertebral bodies Atypical scarring of skin Hip dislocation Congenital contracture Cutaneous syndactyly Aortic regurgitation Abnormal vertebral morphology Abnormality of the genital system Decreased fetal movement Dental malocclusion Downturned corners of mouth Delayed puberty Arthrogryposis multiplex congenita Respiratory tract infection Rocker bottom foot Camptodactyly Conductive hearing impairment Micropenis Hypogonadism Syndactyly Long philtrum Kyphosis Abnormality of the skeletal system Downslanted palpebral fissures High palate Neonatal respiratory distress Multiple joint contractures Absence of labia majora Popliteal pterygium Exostosis of the external auditory canal Intercrural pterygium Neck pterygia Axillary pterygium Bilateral camptodactyly Antecubital pterygium Cervical C2/C3 vertebral fusion Prune belly Talipes calcaneovalgus Camptodactyly of toe Clitoral hypoplasia Dislocated radial head Long clavicles Diaphragmatic eventration Fused cervical vertebrae Rib fusion Patellar aplasia Male hypogonadism Furrowed tongue Abnormality of the neck Down-sloping shoulders Distal arthrogryposis Hypoplastic nipples Gingivitis Periodontitis Cardiorespiratory arrest Dyskinesia Febrile seizures Increased serum lactate Migraine Brain atrophy Generalized myoclonic seizures Progressive cerebellar ataxia Abnormal cerebellum morphology Coma Metabolic acidosis Hepatic steatosis Hepatic failure Pigmentary retinopathy Lactic acidosis Stage 5 chronic kidney disease Abnormality of movement Abnormality of eye movement Lethargy Severe global developmental delay Stroke Retinopathy Abnormality of the liver Pallor Cyanosis Optic disc pallor Developmental regression Oral-pharyngeal dysphagia Mitochondrial myopathy Progressive encephalopathy Optic neuropathy Renal tubular acidosis Basal ganglia calcification Weak cry Poor eye contact Progressive spasticity Pericardial effusion Adrenal insufficiency Incoordination Coarctation of aorta Ragged-red muscle fibers Leukoencephalopathy Shock Pancreatitis Exercise intolerance Horizontal nystagmus Cardiac arrest Aspiration Leukodystrophy Left ventricular hypertrophy Ventricular hypertrophy Irritability Apnea Mild global developmental delay Flat forehead Palmoplantar cutis gyrata Abnormality of primary teeth Facial wrinkling Phalangeal dislocation Testicular torsion Slender toe Soft, doughy skin Large joint dislocations Prominent scalp veins Advanced ossification of carpal bones Absent earlobe Nystagmus Talipes equinovalgus Forearm undergrowth Ulnar bowing Dermal translucency Long toe Poor wound healing Small face Generalized osteoporosis Varicose veins Progeroid facial appearance Ataxia Strabismus Mental deterioration Dystonia Abnormality of the eye Myalgia Proximal muscle weakness Acidosis Respiratory failure Myoclonus Pneumonia Babinski sign Patent ductus arteriosus Encephalopathy Congestive heart failure Sensorineural hearing impairment Vomiting Blindness Atrial septal defect Dysphagia Fatigue Optic atrophy Hyperreflexia Visual impairment Feeding difficulties Anemia Spasticity Abnormality of the right hemidiaphragm



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Cleft upper lip, related diseases and genetic alterations Autoimmunity and Kyphosis, related diseases and genetic alterations Hydrocephalus and Hyperactivity, related diseases and genetic alterations

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