Generalized hypotonia, and Single transverse palmar crease

Diseases related with Generalized hypotonia and Single transverse palmar crease

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Single transverse palmar crease that can help you solving undiagnosed cases.

Top matches:

Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

Other less relevant matches:

Peroxisome biogenesis disorder-4B (PDB4B) includes the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX6 gene have cells of complementation group 4 (CG4, equivalent to CG6 and CGC). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 4B; PBD4B

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALAZAMI-YUAN SYNDROME; ALYUS

NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by Lamers et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW

Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations

WARSAW BREAKAGE SYNDROME Is also known as wabs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about WARSAW BREAKAGE SYNDROME

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

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Single transverse palmar crease

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
High palate Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Single transverse palmar crease. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Growth delay Nystagmus Hypertelorism Epicanthus Microcephaly Optic atrophy Visual impairment Sensorineural hearing impairment Abnormal facial shape Long philtrum Long eyelashes Muscular hypotonia Retinal dystrophy Seizures Neonatal hypotonia Thick eyebrow Decreased liver function

Rare Symptoms - Less than 30% cases

Hepatomegaly Osteoporosis Short neck Syndactyly Postnatal growth retardation Hypermetropia Thin vermilion border Adrenal insufficiency Rod-cone dystrophy Short nose Ataxia Abnormality of the pinna Highly arched eyebrow Macrocephaly Talipes equinovarus Areflexia Dolichocephaly Arachnodactyly High, narrow palate Cataract Wide nasal bridge Brachycephaly Low-set ears Clinodactyly Abnormal palate morphology Abnormality of the liver Polyneuropathy Low-set, posteriorly rotated ears Abnormal bleeding Esotropia Developmental regression Depressed nasal ridge Happy demeanor Flat face Abnormal electroretinogram Bruxism Mild microcephaly Abnormality of movement Facial hypotonia Poor eye contact Ptosis Dry skin Bilateral single transverse palmar creases Anteverted nares Abnormality of neuronal migration Primary adrenal insufficiency EEG abnormality High forehead Polar cataract Abnormality of metabolism/homeostasis Elevated long chain fatty acids Hyperreflexia Failure to thrive Dysarthria Wide anterior fontanel Frontal bossing Malar flattening Hyporeflexia Abnormality of retinal pigmentation Severe global developmental delay Tetralogy of Fallot Steatorrhea Decreased body weight Joint laxity Protruding ear Pectus carinatum Broad forehead Platyspondyly Joint hypermobility Recurrent fractures Triangular face Blue sclerae Increased bone mineral density Kyphoscoliosis Wormian bones Delayed gross motor development Increased susceptibility to fractures Long palpebral fissure Dislocated radial head Osteomalacia Vertebral compression fractures Enuresis Dentinogenesis imperfecta Enuresis nocturna Umbilical hernia Hernia Hypocholesterolemia Sloping forehead Esodeviation Very long chain fatty acid accumulation Intrauterine growth retardation Ventricular septal defect Congestive heart failure Wide mouth Coloboma Smooth philtrum Abnormality of skin pigmentation Optic nerve hypoplasia Bilateral sensorineural hearing impairment Skeletal muscle atrophy Cupped ear Cutis marmorata 2-3 toe syndactyly Chromosome breakage Optic nerve coloboma Small face Premature chromatid separation Hypoplasia of the cochlea Scoliosis Pain Overlapping toe Short columella Drooling Reduced visual acuity Brittle hair Flat occiput Increased number of teeth Bilateral conductive hearing impairment Brachydactyly Myopia Blindness Delayed skeletal maturation Proptosis Autistic behavior Facial asymmetry Micromelia Long face Small hand Progressive visual loss Narrow forehead Fine hair Sandal gap Cutis laxa Bifid uvula Conductive hearing impairment Achromatopsia Poor suck Flexion contracture Myopathy Polyhydramnios Camptodactyly Small for gestational age Decreased fetal movement Joint contracture of the hand Respiratory insufficiency due to muscle weakness Akinesia Autism Scaphocephaly Fetal akinesia sequence Overlapping fingers Oval face Cleft palate Anemia Motor delay Depressed nasal bridge Intellectual disability, mild Dyschromatopsia Prominent glabella Stereotypy Absent speech Broad hallux Unilateral cryptorchidism Curly eyelashes Spasticity Abnormality of the skeletal system Ventriculomegaly Hypoplasia of the corpus callosum Dystonia Pes cavus Dental crowding Upslanted palpebral fissure Gait ataxia Difficulty walking Deeply set eye Unsteady gait Tapered finger Delayed myelination Hip dysplasia Cerebellar vermis hypoplasia Low anterior hairline Wide intermamillary distance Blue cone monochromacy Feeding difficulties Hyposegmentation of neutrophil nuclei Nonprogressive visual loss Peripheral neuropathy Gait disturbance Abnormality of the cerebral white matter Decreased nerve conduction velocity Ureterocele Cryptorchidism Delayed speech and language development Underdeveloped nasal alae Hyperactivity Narrow mouth Thin upper lip vermilion Prominent nasal bridge Synophrys Narrow chest Poor speech Hirsutism Prominent nose Angulated humerus


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