Generalized hypotonia, and Gynecomastia

Diseases related with Generalized hypotonia and Gynecomastia

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

Top matches:

This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.

AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY Is also known as arca2|autosomal recessive cerebellar ataxia type 2|spinocerebellar ataxia, autosomal recessive 9|scar9|autosomal recessive ataxia due to coenzyme q10 deficiency|autosomal recessive spinocerebellar ataxia type 9

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome (see this term) that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.

MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM Is also known as mtdna depletion syndrome, myopathic form|mitochondrial dna depletion myopathy, tk2-related

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Muscle weakness
  • Muscular hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM

Other less relevant matches:

Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ), and about 4 to 6% of patients have mutations in the X-linked SMC1A gene (OMIM ) (CDLS2 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 5; CDLS5

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

BORJESON-FORSSMAN-LEHMANN SYNDROME Is also known as mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type|bfls|intellectual disability-epilepsy-endocrine disorders syndrome|borjeson syndrome|mrxsbfl|mental retardation, epilepsy, and endocrine disorders|borj

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BORJESON-FORSSMAN-LEHMANN SYNDROME

X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

TRICHORHINOPHALANGEAL SYNDROME TYPE 2 Is also known as langer-giedion syndrome|deletion 8q24.1|chromosome 8q24.1 deletion syndrome|lgs|monosomy 8q24.1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 2

ARTERIAL TORTUOSITY SYNDROME; ATS Is also known as arterial tortuosity

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME; ATS

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1|keller syndrome|fg syndrome|fgs|x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|fg syndrome 1|micpch

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Gynecomastia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Microcephaly Macrocephaly Ptosis Deeply set eye Hypogonadism Abnormal facial shape Macrotia Truncal obesity Skeletal muscle atrophy Growth delay Abnormality of the skeletal system Flexion contracture Downslanted palpebral fissures Cognitive impairment Decreased testicular size Bulbous nose Obesity Joint laxity Delayed puberty Long philtrum Hypertelorism Intellectual disability, moderate Sparse hair Gait disturbance Small hand Short foot Joint hyperflexibility Hypergonadotropic hypogonadism Behavioral abnormality Ventriculomegaly Cleft palate Respiratory failure Thin vermilion border High palate Stroke Feeding difficulties Intellectual disability, severe Kyphosis Cataract Nevus Blepharophimosis Gait ataxia Thick lower lip vermilion Micropenis Abnormality of the dentition Failure to thrive Downturned corners of mouth Inguinal hernia Short neck Synophrys Pes cavus Strabismus Aggressive behavior

Rare Symptoms - Less than 30% cases

Telecanthus Brachycephaly Abnormality of the pinna EEG abnormality Coarse facial features Osteoporosis Gastroesophageal reflux Osteopenia Cleft lip Toe syndactyly Clinodactyly of the 5th finger Peripheral neuropathy Feeding difficulties in infancy Prominent supraorbital ridges Prominent nasal bridge Nystagmus Umbilical hernia Visual impairment Protruding ear Thick eyebrow Relative macrocephaly Hip dysplasia Broad forehead Joint hypermobility Prominent nose Agenesis of corpus callosum Hydrocephalus Striae distensae Abnormal palate morphology Restlessness Tics Wide nasal bridge Genu valgum Syndactyly Abnormality of cardiovascular system morphology Conductive hearing impairment Sparse scalp hair Wide mouth Amenorrhea Motor delay Hypoplasia of penis Heterotopia Narrow palpebral fissure Plagiocephaly Moderately short stature Delayed speech and language development Pectus excavatum Dilatation Epicanthus Brachydactyly Hypoplasia of the corpus callosum Hypertonia Absent speech Hypospadias Hyperactivity Anteverted nares Hypothyroidism Myopia Developmental regression Myopathy Lactic acidosis Scapular winging Lumbar hyperlordosis Fatigue Proximal muscle weakness Abdominal obesity High pitched voice Sparse body hair Delayed skeletal maturation Tremor Intrauterine growth retardation Ataxia Intellectual disability, mild Abnormal pyramidal sign Depressed nasal bridge Neonatal hypotonia Cranial nerve VI palsy Decreased fertility in males Bitemporal hemianopia Facial hypotonia Delayed closure of the anterior fontanelle Abnormality of the nasopharynx Adrenocorticotropin deficient adrenal insufficiency Dyspareunia Female hypogonadism Sudden loss of visual acuity Megalencephaly Decreased female libido Gastrointestinal dysmotility Decreased circulating ACTH level Sagittal craniosynostosis Fourth cranial nerve palsy Telangiectases of the cheeks Skin tags Microphthalmia Autism Diabetes mellitus Abnormality of the sternum Partial agenesis of the corpus callosum Babinski sign Areflexia Anteriorly placed anus Midface retrusion Malar flattening Soft, doughy skin Anal stenosis Thoracic scoliosis Anemia Neoplasm Aortic tortuosity Abnormality of hair density Internal ophthalmoplegia Curved fingers Generalized arterial tortuosity Arterial tortuosity Galactorrhea Decreased fertility in females Telangiectasia Ischemic stroke Cutis laxa Aortic regurgitation Short chin Hypogonadotrophic hypogonadism Recurrent pneumonia Increased body weight Aortic valve stenosis Diplopia Thin skin Hyperextensible skin Ventricular hypertrophy Congenital diaphragmatic hernia Progressive visual loss Convex nasal ridge Hypotension Microtia, first degree Bruising susceptibility Postnatal macrocephaly Auricular pit Long face Easy fatigability Hyperinsulinemia Secondary growth hormone deficiency Soft skin Broad hallux Oculomotor nerve palsy Rectal prolapse Abnormal thrombosis Bladder diverticulum Frontal upsweep of hair Adrenocorticotropic hormone deficiency Pituitary hypothyroidism Male hypogonadism Hiatus hernia Prominent fingertip pads Heart murmur Pulmonary artery stenosis Growth hormone excess Tracheomalacia Aortic root aneurysm Keratoconus Atrophic scars Blurred vision Impotence Epiphora Hyperglycemia Narrow mouth Distal amyotrophy Multiple joint contractures Dolichocephaly Craniosynostosis Posterior polar cataract Abnormal glucose tolerance Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Attention deficit hyperactivity disorder Severe global developmental delay Anal atresia Basilar impression Unsteady gait Cleft upper lip Single transverse palmar crease Triangular face Arachnodactyly Intestinal malrotation Webbed neck Fine hair Split hand Absent axillary hair Motor tics Generalized osteoporosis Cerebellar hypoplasia Spasticity Optic atrophy Frontal bossing Ventricular septal defect Clinodactyly Patent ductus arteriosus Abnormal heart morphology Sensorineural hearing impairment Constipation Posteriorly rotated ears Camptodactyly Superiorly displaced ears Calcification of the auricular cartilage Prominent forehead Cerebral cortical atrophy Rigidity Increased size of the mandible Absent facial hair Anxiety Posterior scalloping of vertebral bodies Torus palatinus Choanal atresia Open mouth Congenital cataract Optic nerve hypoplasia Spastic paraparesis Knee flexion contracture Paraparesis Clonus Thickened skin Abnormal form of the vertebral bodies Bradykinesia Cerebral calcification Sacral dimple Pyloric stenosis Narrow palate Congenital contracture Chorioretinal coloboma Otitis media Impulsivity Radial deviation of finger Bowing of the legs Hypoplasia of the maxilla Neurodegeneration Short distal phalanx of finger Narrow chest Osteolysis Schizophrenia Pachygyria Irregular vertebral endplates Dystrophic fingernails Broad thumb Broad face Progressive gait ataxia Aganglionic megacolon Thoracic kyphosis Dental crowding Poor coordination Wide anterior fontanel Insulin-resistant diabetes mellitus Self-injurious behavior Joint contracture of the hand Hip contracture Congenital hypothyroidism Basal ganglia calcification Ankle clonus Mixed hearing impairment Anonychia Metatarsus adductus Bilateral cryptorchidism Melanocytic nevus Vertigo Panhypopituitarism Pulmonic stenosis Decreased activity of mitochondrial respiratory chain Wide nose Hirsutism Microtia Postnatal growth retardation Retrognathia Depletion of mitochondrial DNA in muscle tissue Loss of ability to walk in early childhood Generalized aminoaciduria Weak voice Respiratory arrest Broad nasal tip Abnormality of the basal ganglia Severe lactic acidosis Facial diplegia Mitochondrial myopathy Progressive external ophthalmoplegia Ankle contracture Generalized amyotrophy Decreased muscle mass Toe walking Highly arched eyebrow Long eyelashes Nasal speech Narrow forehead Thickened calvaria Abnormality of the hip bone External genital hypoplasia Abnormality of neuronal migration Hammertoe Scrotal hypoplasia Short toe Hyperpigmentation of the skin Hypertrichosis Full cheeks Low anterior hairline Tapered finger Oral cleft Hypermetropia Happy demeanor Nevus flammeus Limited elbow extension Delayed cranial suture closure Cutis marmorata Proximal placement of thumb Widely spaced teeth Gowers sign Delayed gross motor development Broad foot Neurodevelopmental delay Small for gestational age Focal T2 hypointense basal ganglia lesion Talipes cavus equinovarus Epilepsia partialis continua Increased intramyocellular lipid droplets Generalized tonic seizures Increased CSF lactate Central hypotonia Axonal degeneration Brisk reflexes Premature ovarian insufficiency Exercise intolerance EMG abnormality Increased serum lactate Progressive cerebellar ataxia Muscular hypotonia of the trunk Myoclonus Dystonia Cerebellar atrophy Hyperreflexia Specific learning disability Increased circulating gonadotropin level EMG: myopathic abnormalities Ophthalmoplegia Infantile muscular hypotonia Ragged-red muscle fibers External ophthalmoplegia Respiratory insufficiency due to muscle weakness Intellectual disability, progressive Aminoaciduria Waddling gait Hepatic failure Limb muscle weakness Muscular dystrophy Decreased serum testosterone level Irritability Hyperlordosis Facial palsy Acidosis Pneumonia Elevated serum creatine phosphokinase Cerebral atrophy Respiratory insufficiency Muscle weakness Primary testicular failure Hypopituitarism Broad neck Pectus carinatum Bilateral single transverse palmar creases Cone-shaped epiphyses of the phalanges of the hand Exostoses Increased number of teeth Cone-shaped epiphysis Preaxial polydactyly Redundant skin Deep philtrum Recurrent upper respiratory tract infections Joint dislocation Bone pain Fragile nails Exotropia Recurrent urinary tract infections Growth hormone deficiency Ectodermal dysplasia Vesicoureteral reflux Talipes Finger syndactyly Joint stiffness Low-set, posteriorly rotated ears Spinal cord compression Oligospermia Polydactyly Multiple long-bone exostoses Scarring Pallor Hernia Headache Vomiting Blindness Respiratory distress Hypertension Redundant skin in infancy Scapular exostoses Avascular necrosis of the capital femoral epiphysis Rib exostoses Persistent cloaca Mild postnatal growth retardation Aplasia/Hypoplasia of the mandible Absent toe Hydrometrocolpos Prune belly Multiple exostoses Thick nasal alae Vaginal atresia Thin upper lip vermilion Talipes equinovarus Ketoacidosis Scheuermann-like vertebral changes Polymicrogyria Neurological speech impairment Short philtrum Camptodactyly of finger Pes planus High forehead Mandibular prognathia Hyperhidrosis Immunodeficiency Hypoplasia of the prostate Macroglossia Widely spaced toes Cervical spinal canal stenosis Shortening of all middle phalanges of the fingers Diabetic ketoacidosis Long ear Camptodactyly of toe Shortening of all distal phalanges of the fingers Large earlobe Short 5th finger Short palm Memory impairment Abnormality of toe Abnormality of the musculature Mood swings Small earlobe Abnormality of earlobe Abnormal hair pattern Distal lower limb amyotrophy Down-sloping shoulders Scaphocephaly Biparietal narrowing Cerebellar vermis atrophy Cortical gyral simplification Interphalangeal joint contracture of finger Cortical dysplasia Open bite Large hands Cubitus valgus Cachexia Acanthosis nigricans Sandal gap Short thumb Broad-based gait Intention tremor Facial wrinkling


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