Muscular hypotonia, and Clinodactyly of the 5th finger

Diseases related with Muscular hypotonia and Clinodactyly of the 5th finger

In the following list you will find some of the most common rare diseases related to Muscular hypotonia and Clinodactyly of the 5th finger that can help you solving undiagnosed cases.

Top matches:

Glycosylphosphatidylinositol biosynthesis defect-17 is an autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Patients may present with early-onset febrile or afebrile seizures that tend to be mild or controllable. Other features may include learning disabilities, autism, behavioral abnormalities, hypotonia, and motor deficits. The phenotype is relatively mild compared to that of other GPIBDs (summary by Nguyen et al., 2018).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17; GPIBD17

Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).

CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME Is also known as luteinizing hormone-releasing hormone deficiency with ataxia|gordon-holmes syndrome

Related symptoms:

  • Short stature
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME

16P13.2 MICRODELETION SYNDROME Is also known as del(16)(p13.2)|monosomy 16p13.2

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 16P13.2 MICRODELETION SYNDROME

Other less relevant matches:

Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY 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

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME

Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 Is also known as med4|multiple epiphyseal dysplasia, autosomal recessive|rmed|edm4|polyepiphyseal dysplasia type 4|multiple epiphyseal dysplasia with bilayered patellae|autosomal recessive multiple epiphyseal dysplasia|multiple epiphyseal dysplasia with clubfoot

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Cleft palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q16 DELETION SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 106; MRX106

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Clinodactyly of the 5th finger

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscular hypotonia and Clinodactyly of the 5th finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Clinodactyly Short stature Autism High palate Low-set ears Hypertelorism Delayed speech and language development Finger clinodactyly Abnormal facial shape Strabismus Nystagmus Wide nasal bridge Aggressive behavior Macrocephaly Brachycephaly

Rare Symptoms - Less than 30% cases

Prominent forehead Narrow forehead Micropenis Autistic behavior Downslanted palpebral fissures Frontal bossing Microretrognathia Wide nose Hypoplasia of the corpus callosum Scoliosis Gait disturbance Ventriculomegaly Round face Tapered finger Thin upper lip vermilion Obesity Epicanthus Talipes equinovarus Retrognathia Behavioral abnormality Supernumerary nipple Growth delay Generalized myoclonic seizures Hemiplegia/hemiparesis Motor delay Epiphyseal dysplasia Metaphyseal irregularity Spondyloepiphyseal dysplasia Short middle phalanx of finger Mild short stature Metatarsus adductus Short finger Bilateral talipes equinovarus Growth abnormality Multiple epiphyseal dysplasia Abnormality of the knee Flat capital femoral epiphysis Hip subluxation Knee pain Limited elbow flexion Overgrowth Pointed chin Hypoplasia of penis Rigidity Pain Flexion contracture Brachydactyly Skeletal dysplasia Arthralgia Large for gestational age Arthritis Tall stature Small hand Lissencephaly Short metacarpal Hip dysplasia Congenital hip dislocation Osteoarthritis Abnormality of the patella Hypoplasia of the femoral head Abnormality of cardiovascular system morphology Double-layered patella Amblyopia Inguinal hernia Hernia Thick vermilion border Midface retrusion Short nose Decreased testicular size Open mouth Bicuspid aortic valve Astigmatism Drooling Spastic diplegia High hypermetropia Slender finger Periventricular leukomalacia Cerebellar atrophy Short neck Multifocal cerebral white matter abnormalities Hypermetropia Myopia Short palm Failure to thrive Macrotia EEG abnormality Prominent nasal bridge Bulbous nose Attention deficit hyperactivity disorder High forehead Short foot Hypospadias Full cheeks Narrow mouth Polyphagia Hyperactivity Narrow nose Misalignment of teeth Ventricular septal defect Cleft palate Hand clenching Large fleshy ears Central sleep apnea Large fontanelles Trigonocephaly Hallux valgus Delayed cranial suture closure Speech apraxia Perseveration Premature adrenarche Absent speech Pneumonia Mandibular prognathia Hepatosplenomegaly Anxiety Craniosynostosis Broad nasal tip Stereotypy Apraxia Cryptorchidism Scaphocephaly Dementia Hirsutism Febrile seizures Hypertriglyceridemia Incoordination Dysplastic corpus callosum Ataxia Optic atrophy Hypogonadism Abnormality of the hypothalamus-pituitary axis Neurological speech impairment Abnormality of retinal pigmentation Gynecomastia Hypogonadotrophic hypogonadism Abnormal electroretinogram Personality changes Decreased fertility Recurrent pneumonia Spasticity Horizontal eyebrow Cerebral cortical atrophy Hyperactive deep tendon reflexes Down-sloping shoulders Shuffling gait Aqueductal stenosis Severe hydrocephalus Intellectual disability, severe Cerebellar hypoplasia Abnormality of the pinna Aphasia Synophrys Downturned corners of mouth Congenital hypothyroidism Underdeveloped supraorbital ridges Malignant hyperthermia Congenital stationary night blindness Abnormality of brain morphology Progressive spasticity Adducted thumb Cognitive impairment Abnormality of the nervous system Hyperreflexia Hydrocephalus Intellectual disability, mild Kyphosis Babinski sign Agenesis of corpus callosum Pes cavus Hyperlordosis Spastic paraparesis Camptodactyly of finger Spastic paraplegia Paraplegia Lumbar hyperlordosis Interphalangeal joint contracture of finger Muscle stiffness Paraparesis Disproportionate tall stature


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