Muscular hypotonia, and Narrow chest

Diseases related with Muscular hypotonia and Narrow chest

In the following list you will find some of the most common rare diseases related to Muscular hypotonia and Narrow chest that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 90; MRX90

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

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Low-set ears
  • Brachydactyly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19

Other less relevant matches:

Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.

NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM Is also known as nhpt|nsph|nshpt|hyperparathyroidism, neonatal severe primary

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM

Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT Is also known as jeb-rr|jeb with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome|congenital ilneb syndrome|conge

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Muscular hypotonia
  • Fever
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALAZAMI-YUAN SYNDROME; ALYUS

Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Ptosis
  • Flexion contracture
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about TYPICAL NEMALINE MYOPATHY

Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 1; NEM1

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmetal delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.

AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE Is also known as chondrodysplasia, megarbane-dagher-melki type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Narrow chest

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Respiratory insufficiency Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscular hypotonia and Narrow chest. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Prominent forehead Micromelia Short ribs Short stature Hyperlordosis Respiratory distress Myopathy Feeding difficulties Congestive heart failure Flexion contracture Short neck

Rare Symptoms - Less than 30% cases

Dyspnea Long philtrum Polydactyly Respiratory failure Cleft lip Kyphosis Oral cleft Pulmonary hypoplasia Postaxial polydactyly Pectus excavatum Thoracic hypoplasia Thoracic dysplasia Hyporeflexia Cyanosis Narrow face Tachypnea Depressed nasal bridge Microcephaly Narrow mouth Polyhydramnios Round face Nemaline bodies Facial palsy Arthrogryposis multiplex congenita Waddling gait Facial diplegia Hypokinesia Increased variability in muscle fiber diameter Neonatal hypotonia Intellectual disability Scoliosis Muscular dystrophy Congenital muscular dystrophy Gait disturbance Decreased fetal movement Motor delay Muscle weakness Failure to thrive Elevated serum creatine phosphokinase Respiratory insufficiency due to muscle weakness Growth delay Delayed speech and language development Strabismus Spinal rigidity Neck muscle weakness Limb-girdle muscle weakness Axial muscle weakness Generalized muscle weakness Retrognathia Pes planus Proximal muscle weakness Distal muscle weakness Pectus carinatum Long face Falls EMG: myopathic abnormalities Sensory impairment Easy fatigability Knee flexion contracture Lumbar hyperlordosis Open mouth Hypertonia Frequent falls Progressive muscle weakness Muscle stiffness Pes cavus Cleft palate Dysphagia Foot dorsiflexor weakness Micrognathia Ptosis Aplastic clavicle Retinal coloboma Upper limb undergrowth Anencephaly Hip dislocation Genu valgum Genu varum Fatigable weakness of distal limb muscles Molar tooth sign on MRI Preaxial polydactyly Myopathic facies Type 1 muscle fiber predominance Neck flexor weakness Nocturnal hypoventilation Fatiguable weakness of proximal limb muscles Fatigable weakness of respiratory muscles Hydrops fetalis Cerebellar vermis hypoplasia Decreased muscle mass Micropenis Curly eyelashes Abnormality of the pinna Large fontanelles Wide anterior fontanel Wormian bones Short long bone Deep philtrum Bell-shaped thorax Delayed epiphyseal ossification Spondylometaphyseal dysplasia Metaphyseal cupping Coloboma Agenesis of corpus callosum Hypoplastic ischia Squared iliac bones Hernia Edema Atrial septal defect Severe platyspondyly Hydrocephalus Dysplastic sacrum Iliac crest serration Cardiomegaly Limb undergrowth Difficulty climbing stairs Hypertension Centrally nucleated skeletal muscle fibers Difficulty running Abnormality of the skeletal system Thoracic kyphosis Distal lower limb amyotrophy Distal lower limb muscle weakness Slender build Myokymia Shoulder girdle muscle atrophy Congenital diaphragmatic hernia Frontal bossing Wide nose Anteverted nares Short nose Dilatation Delayed skeletal maturation Muscular hypotonia of the trunk Postnatal growth retardation Microtia Small for gestational age Platyspondyly Polymicrogyria Pulmonary arterial hypertension Decreased glomerular filtration rate Unilateral cryptorchidism Hypercalciuria Horizontal ribs Neoplasm Anemia Hepatomegaly Splenomegaly Constipation Feeding difficulties in infancy Recurrent fractures Abnormality of the metaphysis Aminoaciduria Hypercalcemia Hypoplastic ilia Polydipsia Metaphyseal irregularity Polyuria Hypophosphatemia Abnormality of the thyroid gland Hyperparathyroidism Thyroiditis Hashimoto thyroiditis Calcinosis Neoplasm of the endocrine system Elevated circulating parathyroid hormone level Lateral clavicle hook Prominent occiput Primary hyperparathyroidism Limitation of joint mobility Intellectual disability, severe Behavioral abnormality Upslanted palpebral fissure Enuresis Skeletal muscle atrophy Talipes equinovarus Arrhythmia Limb muscle weakness Abnormality of the foot Joint hyperflexibility Talipes Myocardial infarction Relative macrocephaly EMG abnormality Severe muscular hypotonia Poor head control Cachexia Generalized amyotrophy Brachydactyly Ventricular septal defect Syndactyly Midface retrusion Dolichocephaly Hypoplasia of the radius Hyperphosphaturia Parathyroid adenoma Short columella Synophrys Onycholysis Seizures Crossed fused renal ectopia Respiratory acidosis Junctional split Abnormal facial shape Cryptorchidism Hyperactivity Thin upper lip vermilion Prominent nasal bridge Poor speech Fragile skin Thick eyebrow Hirsutism Highly arched eyebrow Single transverse palmar crease Prominent nose Underdeveloped nasal alae Wide intermamillary distance Dental crowding Long eyelashes Low anterior hairline Broad hallux Tubular atrophy Interstitial pulmonary abnormality Parathyroid hyperplasia Abnormal blistering of the skin Abnormality of calcium-phosphate metabolism Hypertelorism Fever Renal insufficiency Pneumonia Recurrent respiratory infections Macrotia Proteinuria Respiratory tract infection Erythema Nail dystrophy Nephrotic syndrome Ectopic kidney Fine hair Sparse scalp hair Abnormal lung morphology Sparse and thin eyebrow Gynecomastia Recurrent pneumonia Sparse eyelashes Hypoalbuminemia Glomerulosclerosis Neonatal respiratory distress Focal segmental glomerulosclerosis Short upper lip


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