Muscular hypotonia, and Camptodactyly of finger

Diseases related with Muscular hypotonia and Camptodactyly of finger

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

Top matches:

SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).

AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME Is also known as slc35a3-cdg

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME

Low match MASA SYNDROME

MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

MASA SYNDROME Is also known as spastic paraplegia 1, x-linked|thumb, congenital clasped, with mental retardation|gareis-mason syndrome|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|clasped thumb and mental retardation|spg1|mental retardation, aphasia, shufflin

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASA SYNDROME

Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.

SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 Is also known as dhmn6|hmn6|neuronopathy, distal hereditary motor, type vi|spinal muscular atrophy, diaphragmatic|autosomal recessive distal spinal muscular atrophy type 1|autosomal recessive spinal muscular atrophy with respiratory distress|dsma1|distal-hmn type 6|diaphr

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1

Other less relevant matches:

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

BETHLEM MYOPATHY 1; BTHLM1 Is also known as muscular dystrophy, benign congenital|bethlem myopathy|myopathy, benign congenital, with contractures

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about BETHLEM MYOPATHY 1; BTHLM1

EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME

Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.

BETHLEM MYOPATHY Is also known as ullrich scleroatonic muscular dystrophy|benign autosomal dominant myopathy|ullrich disease|ullrich congenital muscular dystrophy|muscular dystrophy, scleroatonic|ucmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BETHLEM MYOPATHY

Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.

STÜVE-WIEDEMANN SYNDROME Is also known as neonatal schwartz-jampel syndrome|stÜve-wiedemann dysplasia|sjs2|schwartz-jampel syndrome type 2

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about STÜVE-WIEDEMANN SYNDROME

Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HEART AND BRAIN MALFORMATION SYNDROME; HBMS

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Camptodactyly of finger

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Muscular hypotonia and Camptodactyly of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Global developmental delay Talipes equinovarus Neonatal hypotonia Respiratory failure Muscle weakness Feeding difficulties Motor delay Respiratory distress Decreased fetal movement Interphalangeal joint contracture of finger Diaphragmatic paralysis Muscular dystrophy Myopathy Intellectual disability Short stature Paralysis High palate Hyperhidrosis Hand clenching Microcephaly

Rare Symptoms - Less than 30% cases

Distal muscle weakness Small for gestational age Progressive muscle weakness Severe muscular hypotonia Recurrent lower respiratory tract infections Nocturnal hypoventilation Hyporeflexia Hypertelorism Cleft palate Short neck Proximal muscle weakness Microphthalmia Congenital muscular dystrophy Feeding difficulties in infancy Recurrent fractures Micromelia Joint stiffness Osteopenia Osteoporosis Generalized muscle weakness Facial palsy Gastroesophageal reflux Follicular hyperkeratosis Limb-girdle muscular dystrophy Long fingers Respiratory insufficiency due to muscle weakness Torticollis Congenital hip dislocation Elbow flexion contracture Scarring Protruding ear Skeletal muscle atrophy Rigidity Kyphoscoliosis Hyperkeratosis Respiratory insufficiency Ankle contracture Intrauterine growth retardation Hip dislocation Kyphosis Macrocephaly Hyperreflexia Hyperactive deep tendon reflexes Intellectual disability, mild Autistic behavior Gingival overgrowth Generalized amyotrophy Difficulty climbing stairs Spinal rigidity Progressive proximal muscle weakness Proximal amyotrophy Type 1 muscle fiber predominance Slender build Muscle fiber necrosis Impaired mastication Hyperextensibility at wrists Multiple joint contractures Increased laxity of fingers Chronic diarrhea Increased laxity of ankles Abnormality of the dentition Hypothyroidism Thickened skin Skeletal dysplasia Apnea Abnormality of the eye Genu valgum Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Lymphedema Osteomalacia Hyperpigmentation of the skin Skin ulcer Recurrent bacterial infections Polycystic ovaries Increased susceptibility to fractures Urticaria Abnormality of dental morphology Steatorrhea Telangiectasia of the skin Abnormality of the musculature Abnormality of the gastrointestinal tract Abnormality of mitochondrial metabolism Abnormality of the adrenal glands Aplasia/Hypoplasia of the thymus Joint laxity Intellectual disability, severe Round face Growth hormone deficiency Pachygyria Paresthesia Lissencephaly Cachexia EMG abnormality Limitation of joint mobility Asthma Brain atrophy Posteriorly rotated ears Prominent forehead Polyhydramnios Muscular hypotonia of the trunk Cleft lip Camptodactyly Abnormality of the pinna Abnormal cardiac septum morphology High, narrow palate Everted lower lip vermilion Sepsis Dandy-Walker malformation Hypoplasia of the corpus callosum Narrow forehead Cerebellar vermis hypoplasia Thick lower lip vermilion Wide anterior fontanel Aplasia/Hypoplasia of the corpus callosum Global brain atrophy Prominent occiput Poor eye contact Prominent metopic ridge Widow's peak Delayed CNS myelination Cerebral atrophy Anteverted nares Oligohydramnios Abnormal cortical bone morphology Abnormality of the metaphysis Bowing of the long bones Hypohidrosis Abnormal autonomic nervous system physiology Knee flexion contracture Sacral dimple Abnormality of vision Metaphyseal widening Impaired pain sensation Episodic fever Trismus Lacrimation abnormality Ventricular septal defect Thickened cortex of long bones Ectopic thyroid Decreased corneal reflex Flexion contracture of finger Smooth tongue Absent patellar reflexes Abnormal facial shape Low-set ears Visual impairment Depressed nasal bridge Wide nasal bridge Subcutaneous nodule Malabsorption Short palm Downslanted palpebral fissures Paraparesis Inspiratory stridor Diaphragmatic weakness Muscle stiffness Peripheral axonal degeneration Ventilator dependence with inability to wean Denervation of the diaphragm Lumbar hyperlordosis Paraplegia Cataract Spastic paraplegia Degeneration of anterior horn cells Behavioral abnormality Hyperlordosis Abnormality of the nervous system Low-set, posteriorly rotated ears Coloboma Short philtrum Severe global developmental delay Toe syndactyly Arachnodactyly Pes cavus Diaphragmatic eventration EMG: neuropathic changes Small face Peripheral axonal neuropathy Pain Severe hydrocephalus Constipation Aqueductal stenosis Shuffling gait Down-sloping shoulders Progressive spasticity Limb muscle weakness Abnormality of the foot Lower limb muscle weakness Distal amyotrophy Spastic paraparesis Urinary incontinence Premature birth Aphasia Hemiplegia/hemiparesis Adducted thumb Tachypnea Decreased nerve conduction velocity Spinal muscular atrophy Axonal degeneration Weak cry Hypoventilation Central apnea Abnormal oral frenulum morphology Autism Nasal speech Dysphagia Pectus excavatum Encephalopathy Areflexia Absence seizures Hip dysplasia Respiratory tract infection Arthrogryposis multiplex congenita Recurrent pneumonia Poor head control Restrictive ventilatory defect Plantar flexion contractures Bulbar palsy Difficulty running Increased connective tissue Respiratory arrest Increased endomysial connective tissue Brachydactyly Immunodeficiency Severe short stature Coarse facial features Intellectual disability, moderate Peripheral neuropathy Microretrognathia Necrotizing myopathy Abnormality iris morphology Papule Bullet-shaped distal phalanx of the hallux Abnormality of the skeletal system Cardiomyopathy Agenesis of corpus callosum Elevated serum creatine phosphokinase Babinski sign Clinodactyly of the 5th finger Hydrocephalus Ventriculomegaly Gait disturbance Abnormality of the cardiovascular system Limb-girdle muscle atrophy Delayed speech and language development Cognitive impairment Spasticity Strabismus Congenital contracture Atypical absence seizures Knee dislocation Limb-girdle muscle weakness Hammertoe Abnormality of the mitochondrion Congenital muscular torticollis Interrupted aortic arch


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