Generalized hypotonia, and Camptodactyly of finger

Diseases related with Generalized hypotonia and Camptodactyly of finger

In the following list you will find some of the most common rare diseases related to Generalized 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

Medium 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:

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

Medium match BETHLEM MYOPATHY

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

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

Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).

WAARDENBURG SYNDROME, TYPE 3; WS3 Is also known as klein-waardenburg syndrome|waardenburg syndrome, type iii|waardenburg syndrome with upper limb anomalies

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 3; WS3

Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.

INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY Is also known as smax2|amc, distal, x-linked|arthrogryposis, x-linked, type i|spinal muscular atrophy, infantile x-linked|x-linked spinal muscular atrophy type 2|spinal muscular atrophy, x-linked lethal infantile|spinal muscular atrophy with arthrogryposis|x-linked distal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY

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

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Myopathy Talipes equinovarus Motor delay Respiratory failure Decreased fetal movement Growth delay Microcephaly Muscular hypotonia Muscular dystrophy Respiratory insufficiency Wide nasal bridge Feeding difficulties Facial palsy Skeletal muscle atrophy Respiratory distress Protruding ear Hyperhidrosis High palate Paralysis Respiratory insufficiency due to muscle weakness Severe muscular hypotonia Diaphragmatic paralysis Interphalangeal joint contracture of finger Neonatal hypotonia Intellectual disability Kyphosis Arthrogryposis multiplex congenita

Rare Symptoms - Less than 30% cases

Ankle contracture Congenital muscular dystrophy Congenital contracture Torticollis Congenital hip dislocation Hip dislocation Scarring Proximal muscle weakness Cleft palate Rigidity Kyphoscoliosis Hyperkeratosis Abnormality of the fingernails Abnormality of the skeletal system Nocturnal hypoventilation Degeneration of anterior horn cells Recurrent lower respiratory tract infections Follicular hyperkeratosis Areflexia Progressive muscle weakness Anteverted nares Syndactyly Mandibular prognathia Telecanthus Blepharophimosis Abnormality of the pinna Camptodactyly Cleft lip Intellectual disability, severe Gastroesophageal reflux Depressed nasal bridge Low-set ears Abnormal facial shape Hypertelorism Intellectual disability, mild Multiple joint contractures Joint stiffness Generalized muscle weakness Spinal muscular atrophy Limb-girdle muscular dystrophy Hyperreflexia Strabismus Hand clenching Paraplegia Spastic paraplegia Hyporeflexia Distal muscle weakness Gait disturbance Short stature Cognitive impairment Hyperactive deep tendon reflexes Adducted thumb Vitiligo White hair Sprengel anomaly Micrognathia Blue irides Heterochromia iridis Cutaneous finger syndactyly Premature graying of hair Carpal synostosis Pyelonephritis Atelectasis Hypertension Abnormality of the kidney Renal insufficiency Abnormality of the dentition Myopia Abnormality of the scalp Epicanthus Cataract White forelock Poliosis Dacryocystitis Partial albinism Narrow naris Bronchomalacia Albinism Duplication of renal pelvis Ptosis Congenital sensorineural hearing impairment Abnormality of skin pigmentation Hearing impairment Sensorineural hearing impairment Brachydactyly Atrial septal defect Vomiting Inguinal hernia Clinodactyly Hypospadias Hernia Abnormality of metabolism/homeostasis Prominent nasal bridge Synophrys Long philtrum Cryptorchidism Thick vermilion border Hypopigmentation of the skin Abdominal distention Underdeveloped nasal alae Aganglionic megacolon Anorexia Joint contracture of the hand Short nose Scapular winging Macrotia Short neck Hypopigmented skin patches Coloboma Sparse hair Iris coloboma Microtia Multiple lipomas Hypoplasia of penis Narrow palpebral fissure Delayed CNS myelination Small earlobe Cutaneous syndactyly Abnormality of the urinary system Abnormality of the thorax Cupped ear 2-3 toe syndactyly Myopathic facies Agenesis of permanent teeth Open mouth Bilateral single transverse palmar creases Breast aplasia Narrow nasal bridge Aplasia cutis congenita Hypoplastic nipples Palpebral edema Short columella Proximal placement of thumb Aplasia cutis congenita of scalp Failure to thrive in infancy Abnormality of the antihelix Eyelid coloboma Abnormality of the endocrine system Aplasia/Hypoplasia of the nipples Absent nipple Thickened nuchal skin fold Bilateral renal hypoplasia Finger syndactyly Renal agenesis Nail dystrophy Congenital cataract Dry skin Ureteral duplication Delayed eruption of teeth Skin dimples Underdeveloped antitragus 3-4 finger cutaneous syndactyly Vesicoureteral reflux Nail dysplasia Abnormality of the skin Microphallus Underdeveloped tragus Hypotelorism Wide intermamillary distance Renal hypoplasia Fine hair Recurrent urinary tract infections Hypohidrosis Bilateral camptodactyly Dolichocephaly Micropenis Tongue fasciculations Narrow chest Hypoplastic helices Abnormality of the hair Abnormality of the nail Type I diabetes mellitus Interrupted aortic arch Proximal amyotrophy Widow's peak Axonal degeneration Peripheral neuropathy Intrauterine growth retardation Constipation Small for gestational age Limb muscle weakness Abnormality of the foot Lower limb muscle weakness Peripheral axonal neuropathy Distal amyotrophy Urinary incontinence Premature birth Tachypnea Decreased nerve conduction velocity Weak cry Severe hydrocephalus Hypoventilation EMG: neuropathic changes Diaphragmatic eventration Inspiratory stridor Diaphragmatic weakness Peripheral axonal degeneration Ventilator dependence with inability to wean Denervation of the diaphragm Cardiomyopathy Elevated serum creatine phosphokinase Papule Abnormality of the cardiovascular system Elbow flexion contracture Pain Aqueductal stenosis Abnormality of the mitochondrion Hydrocephalus Autism Intellectual disability, moderate Autistic behavior Hip dysplasia Absence seizures Microretrognathia Hammertoe Knee dislocation Atypical absence seizures Spasticity Delayed speech and language development Macrocephaly Ventriculomegaly Clinodactyly of the 5th finger Shuffling gait Babinski sign Agenesis of corpus callosum Pes cavus Abnormality of the nervous system Hyperlordosis Lumbar hyperlordosis Muscle stiffness Paraparesis Spastic paraparesis Hemiplegia/hemiparesis Aphasia Progressive spasticity Down-sloping shoulders Limb-girdle muscle weakness Congenital muscular torticollis Prominent metopic ridge Muscular hypotonia of the trunk Muscle fiber necrosis Impaired mastication Hyperextensibility at wrists Increased laxity of fingers Increased laxity of ankles Visual impairment Ventricular septal defect Hypoplasia of the corpus callosum Microphthalmia Cerebral atrophy Posteriorly rotated ears Prominent forehead Polyhydramnios Abnormal cardiac septum morphology Type 1 muscle fiber predominance High, narrow palate Everted lower lip vermilion Sepsis Brain atrophy Dandy-Walker malformation 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 Slender build Progressive proximal muscle weakness Limb-girdle muscle atrophy Increased connective tissue Necrotizing myopathy Plantar flexion contractures Dysphagia Pectus excavatum Encephalopathy Respiratory tract infection Recurrent pneumonia Poor head control Nasal speech Restrictive ventilatory defect Long fingers Bulbar palsy Difficulty running Respiratory arrest Spinal rigidity Increased endomysial connective tissue Joint laxity Feeding difficulties in infancy Round face Growth hormone deficiency Pachygyria EMG abnormality Lissencephaly Cachexia Abnormality of mitochondrial metabolism Increased variability in muscle fiber diameter Mildly elevated creatine phosphokinase Generalized amyotrophy Difficulty climbing stairs Proximal spinal muscular atrophy


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