Skeletal muscle atrophy, and Umbilical hernia

Diseases related with Skeletal muscle atrophy and Umbilical hernia

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

Top matches:

Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy (see this term) characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1 Is also known as muscular atrophy, infantile|sma type 1|sma-i|infantile spinal muscular atrophy|sma, infantile acute form|sma1|werdnig-hoffmann disease|sma i|sma type i

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity.

OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13 Is also known as oi, type xiii

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Pain


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13

Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

Other less relevant matches:

Medium match LEPRECHAUNISM

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME Is also known as autosomal recessive non-lethal multiple pterygium syndrome|escobar variant multiple pterygium syndrome|evmps|escobar syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME

Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM Is also known as iduronate 2-sulfatase deficiency type b|mucopolysaccharidosis type ii, attenuated form|mucopolysaccharidosis type iib|mps2b|mpsiib|hunter syndrome type b|mucopolysaccharidosis type 2b

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

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

SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Is also known as sja syndrome|schwartz-jampel-aberfeld syndrome|sjs|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities|schwartz-jampel syndrome|chondrodystrophic myotonia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.

Related symptoms:

  • Muscular hypotonia
  • Feeding difficulties
  • Constipation
  • Hypothyroidism
  • Coarse facial features


SOURCES: ORPHANET MENDELIAN

More info about PERIPHERAL RESISTANCE TO THYROID HORMONES

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Inguinal hernia Common - Between 50% and 80% cases
Hernia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Low-set ears Talipes equinovarus Micrognathia Generalized hypotonia Myopathy Flexion contracture Hearing impairment Dysphagia Hypertelorism Failure to thrive Arachnodactyly Abnormal facial shape Muscle weakness Pectus carinatum Kyphoscoliosis Long philtrum Abnormality of the skeletal system Pain Epicanthus Gait disturbance Short neck Growth delay Respiratory distress Cleft palate Ptosis Conductive hearing impairment Abdominal distention

Rare Symptoms - Less than 30% cases

Aplasia/Hypoplasia of the abdominal wall musculature Hyperkeratosis Osteopenia Disproportionate tall stature Abnormality of the foot Rib fusion Microcornea Arthrogryposis multiplex congenita Neonatal respiratory distress Cutis laxa Pulmonary hypoplasia Pterygium Long face Postnatal growth retardation Intellectual disability Abnormality of cardiovascular system morphology Narrow mouth Prune belly Camptodactyly Talipes Generalized hirsutism High palate Downslanted palpebral fissures Hirsutism Cognitive impairment Pectus excavatum Hypogonadism Wrist flexion contracture Low-set, posteriorly rotated ears Proptosis Severe short stature Delayed skeletal maturation Intrauterine growth retardation Myopia Pes planus Multiple pterygia Muscular hypotonia Recurrent fractures Coarse facial features Joint hypermobility Platyspondyly Broad forehead Fever Full cheeks Constipation Hypertension Decreased fetal movement Multiple joint contractures Joint laxity Recurrent respiratory infections Respiratory insufficiency Blue sclerae Osteoporosis Increased susceptibility to fractures Dislocated radial head Sensorineural hearing impairment Popliteal pterygium Antecubital pterygium Axillary pterygium Absence of labia majora Hearing abnormality Interphalangeal joint contracture of finger Peritonitis Dermatan sulfate excretion in urine Narrow chest Abnormality of mucopolysaccharide metabolism Joint stiffness Functional motor deficit Heparan sulfate excretion in urine Hyperparathyroidism Vesicoureteral reflux Episodic abdominal pain Chronic constipation Achalasia Volvulus Obstructive lung disease Tonsillitis Abdominal situs inversus Intestinal pseudo-obstruction Thenar muscle atrophy Urinary retention Pollakisuria Microcolon Expressive language delay Hydronephrosis Flared nostrils Megacystis Urethral obstruction Barrett esophagus Neuroma Round face Recurrent upper and lower respiratory tract infections Aganglionic megacolon Overgrowth Recurrent urinary tract infections Horseshoe kidney Pancreatitis Diarrhea Ophthalmoplegia External ophthalmoplegia Hypoalbuminemia Portal hypertension Vomiting Abdominal pain Anteverted nares Dilatation Prominent nasal bridge Abnormality of the liver Incisional hernia Weight loss Gastrointestinal obstruction Intestinal obstruction Polyhydramnios Peripheral neuropathy Malnutrition Intestinal malrotation Ridged cranial sutures Abnormality of the Eustachian tube Anonychia Pneumonia Abnormality of nasopharyngeal adenoids Restricted chest movement Hydroureter Global developmental delay Hypoperistalsis Coxa vara Hip contracture High pitched voice Skeletal muscle hypertrophy Myotonia Overfolded helix Metaphyseal widening Sleep apnea Narrow palpebral fissure Coxa valga Blepharospasm EMG abnormality Congenital hip dislocation Abnormal autonomic nervous system physiology Elbow flexion contracture Joint contracture of the hand Bowing of the long bones Lumbar hyperlordosis Decreased testicular size Flat face Malignant hyperthermia Constrictive median neuropathy Apnea Smooth tongue Abnormality of the face Macroglossia Sleep disturbance Jaundice Hypothyroidism Feeding difficulties Anterior bowing of long bones Long eyelashes in irregular rows Abnormality of femoral epiphysis Generalized muscle hypertrophy Coronal cleft vertebrae Shoulder flexion contracture Pursed lips Percussion myotonia Talipes valgus Temperature instability Flexion contracture of toe Spinal deformities Weak voice Hypoplasia of the musculature Blepharophimosis Rigidity Megaduodenum Congenital diaphragmatic hernia Distal arthrogryposis Hypoplastic nipples Vertebral fusion Rocker bottom foot Congenital contracture Cutaneous syndactyly Aortic regurgitation Abnormal vertebral morphology Abnormality of the genital system Dental malocclusion Abnormality of the neck Downturned corners of mouth Delayed puberty Hip dislocation Respiratory tract infection Abnormality of the kidney Micropenis Hypospadias Syndactyly Kyphosis Down-sloping shoulders Furrowed tongue Skeletal dysplasia Neck pterygia Hyperhidrosis Hyporeflexia Midface retrusion Malar flattening Cataract Dysplastic patella Anterior clefting of vertebral bodies Exostosis of the external auditory canal Intercrural pterygium Hypoplastic heart Male hypogonadism Bilateral camptodactyly Cervical C2/C3 vertebral fusion Talipes calcaneovalgus Camptodactyly of toe Clitoral hypoplasia Long clavicles Diaphragmatic eventration Fused cervical vertebrae Patellar aplasia Mucopolysacchariduria Aplasia/Hypoplasia of the skin Thoracolumbar kyphosis Congenital muscular dystrophy Keloids Bladder diverticulum Cleft soft palate Follicular hyperkeratosis Soft skin Atrophic scars Difficulty climbing stairs Poor suck Arterial rupture Hyperextensible skin Easy fatigability Poor head control Severe muscular hypotonia Hypotelorism Sloping forehead Waddling gait High-frequency sensorineural hearing impairment Abnormal eye morphology Muscular dystrophy Nail dysplasia Hepatic fibrosis Gingival overgrowth Cholestasis Hypertrichosis Thick lower lip vermilion Epidermal acanthosis Type II diabetes mellitus High, narrow palate Aortic rupture Thick vermilion border Small for gestational age Wide mouth Feeding difficulties in infancy Hypoglycemia Macrotia Recurrent infections Depressed nasal bridge Bruising susceptibility Scarring Gynecomastia Tetraparesis Decreased number of large peripheral myelinated nerve fibers Tongue fasciculations Proximal amyotrophy EMG: neuropathic changes Axonal degeneration Spinal muscular atrophy Recurrent pneumonia Abnormal cardiac septum morphology Proximal muscle weakness in lower limbs Paralysis Muscular hypotonia of the trunk Proximal muscle weakness Respiratory failure Abnormal heart morphology Areflexia Atrial septal defect Ventricular septal defect Degeneration of anterior horn cells Protruding ear Elevated serum creatine phosphokinase Vertebral compression fractures Patent ductus arteriosus Cardiomyopathy Motor delay Angulated humerus Enuresis nocturna Dentinogenesis imperfecta Enuresis Osteomalacia Thin vermilion border Long palpebral fissure Delayed gross motor development Wormian bones Increased bone mineral density Long eyelashes Decreased body weight Triangular face Single transverse palmar crease Insulin resistance Acanthosis nigricans Clubbing of fingers Abnormal aortic valve morphology Frontal bossing Macrocephaly Wide nasal bridge Hepatomegaly Morphological abnormality of the gastrointestinal tract Abnormality of skeletal morphology Abnormality of the tongue Symphalangism affecting the phalanges of the hand Intellectual disability, mild Abnormal eyelid morphology Abnormality of the sternum Vertebral segmentation defect Aortic aneurysm Scrotal hypoplasia Spina bifida occulta Pointed chin Congestive heart failure Mandibular prognathia Hypoplasia of penis Prominent supraorbital ridges Abnormality of the skull Papilledema Protuberant abdomen Rhinitis Abnormal heart valve morphology Short finger Bowel incontinence Widely spaced teeth Hepatosplenomegaly Hoarse voice Thickened skin Osteoarthritis Abnormality of the cardiovascular system Otitis media Abnormality of the skin Prominent nose Urinary incontinence Low posterior hairline Webbed neck Cachexia Lipoatrophy Ovarian cyst Small face Concave nasal ridge Long foot Severe failure to thrive Thickened nuchal skin fold Severe intrauterine growth retardation Reduced subcutaneous adipose tissue Long penis Hypermelanotic macule Decreased muscle mass Glucose intolerance Hyperglycemia Large hands Clitoral hypertrophy Precocious puberty Hyperinsulinemia Fasting hypoglycemia Thick nasal alae Limitation of joint mobility Telecanthus Nevus Oral cleft Abnormality of movement Facial asymmetry Dolichocephaly Finger syndactyly Camptodactyly of finger Strabismus Abnormality of the abdominal wall Asymmetry of the breasts Prominent nipples Adipose tissue loss Elfin facies Postprandial hyperglycemia Female pseudohermaphroditism Absence of subcutaneous fat Pancreatic islet-cell hyperplasia Large fontanelles


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Delayed eruption of teeth, related diseases and genetic alterations Brachydactyly and Aortic valve stenosis, related diseases and genetic alterations Depressed nasal bridge and Arachnodactyly, related diseases and genetic alterations