Generalized hypotonia, and Craniosynostosis

Diseases related with Generalized hypotonia and Craniosynostosis

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

Top matches:

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures (Twigg et al., 2015).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 6; CRS6

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

Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Pain
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CATARACT-GLAUCOMA SYNDROME

Other less relevant matches:

Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (Quarello et al., 2004).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 Is also known as osteopetrosis, infantile malignant 3

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Anemia


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5

NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION Is also known as au-kline syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION

Medium match SLC39A8-CDG

Congenital disorder of glycosylation type IIn (CDG2N) is an autosomal recessive severe multisystem developmental disorder characterized by delayed psychomotor development apparent from infancy, hypotonia, and variable additional features, such as short stature, seizures, visual impairment, and cerebellar atrophy. Serum transferrin analysis shows a CDG type II pattern (summary by Boycott et al., 2015 and Park et al., 2015).For a discussion of genetic heterogeneity of CDG type II, see CDG2A (OMIM ).

SLC39A8-CDG Is also known as slc39a8 deficiency|cdg2n|congenital disorder of glycosylation type 2n|cdg iin|cdg syndrome type iin|carbohydrate deficient glycoprotein syndrome type iin|cdgiin|cdg-iin|congenital disorder of glycosylation type iin

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SLC39A8-CDG

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

High palate Seizures Proptosis Constipation Short stature Downslanted palpebral fissures Feeding difficulties Muscular hypotonia Delayed speech and language development Microcephaly Ptosis Hearing impairment Brachydactyly Abnormality of the skeletal system Frontal bossing Ventriculomegaly Macrocephaly Wide nasal bridge Brachycephaly Low-set ears Turricephaly

Rare Symptoms - Less than 30% cases

Hypermetropia Arnold-Chiari malformation Visual impairment Hyperactivity Failure to thrive Epicanthus Flexion contracture Obsessive-compulsive behavior Severe short stature Osteopenia Upslanted palpebral fissure Recurrent otitis media Otitis media Astigmatism Posteriorly rotated ears Midface retrusion Thin upper lip vermilion Kyphosis Hydrocephalus Abnormal cardiac septum morphology Neurological speech impairment Blepharophimosis Microdontia Joint hypermobility Micrognathia Hepatosplenomegaly Poor speech Stereotypy Pneumonia Agenesis of corpus callosum Broad nasal tip Pathologic fracture Long face Prominent forehead Clinodactyly Pain Abnormal facial shape Anxiety Microtia Cerebral atrophy Attention deficit hyperactivity disorder Cerebellar atrophy Inverted nipples Downturned corners of mouth Flat face Inability to walk Underdeveloped nasal alae Limb undergrowth Dolichocephaly Postaxial polydactyly Hip dysplasia Wide intermamillary distance Bicuspid aortic valve Long palpebral fissure Overlapping toe Sparse lateral eyebrow Wide nasal ridge Nystagmus Oligodontia Hyperreflexia Thickened nuchal skin fold Syndactyly Recurrent infections Sacral dimple Cerebral cortical atrophy Open mouth Apnea Abnormality of the liver Polydactyly Joint hyperflexibility Intellectual disability, profound Narrow mouth Coronal craniosynostosis Communicating hydrocephalus Vertebral compression fractures Severe hydrops fetalis Multiple suture craniosynostosis Crumpled long bones Orbital craniosynostosis Myopia Diarrhea Autism Central hypotonia Pes planus Telecanthus Autistic behavior Prominent nasal bridge Hypertrichosis Hoarse voice Pointed chin Toe walking Hyperventilation Microtia, first degree Shallow orbits Hyperthyroidism Hypsarrhythmia Delayed eruption of teeth Knee flexion contracture Cutaneous syndactyly Hypopnea Growth delay Intrauterine growth retardation Edema Skeletal dysplasia Pectus excavatum Bruising susceptibility Recurrent fractures High pitched voice Abnormality of the ribs Blue sclerae Abnormal form of the vertebral bodies Abnormality of the metaphysis Bowing of the long bones Hydrops fetalis Wormian bones Abnormality of dental enamel Increased susceptibility to fractures Abnormality of the voice Hyporeflexia Long foot Ventricular septal defect Osteomalacia Respiratory failure Arthralgia Arthritis Waddling gait Bone pain Increased intracranial pressure Hypercalcemia Rickets Premature loss of teeth Abnormality of the dentition Papilledema Chondrocalcinosis Chronic pain Premature loss of primary teeth Pulmonary insufficiency Depressed nasal bridge Abnormal heart morphology Coarse facial features Headache Vomiting Wide mouth Anterior plagiocephaly Sensorineural hearing impairment High forehead Dandy-Walker malformation Low anterior hairline Spina bifida Spina bifida occulta Plagiocephaly Delayed cranial suture closure Clinodactyly of the 5th finger Respiratory distress Mandibular prognathia Retrognathia Aggressive behavior Recurrent pneumonia Finger clinodactyly Microretrognathia Scaphocephaly Hypertension Fever Feeding difficulties in infancy Thick eyebrow Cryptorchidism Brain atrophy Hypertonia Abnormality of metabolism/homeostasis Thrombocytopenia Muscular hypotonia of the trunk Facial palsy Irritability Abnormality of skin pigmentation Hepatic failure Increased bone mineral density Optic atrophy Bone marrow hypocellularity Severe vision loss Arnold-Chiari type I malformation Osteopetrosis Generalized osteosclerosis Extramedullary hematopoiesis Cranial hyperostosis Absence of renal corticomedullary differentiation Decreased osteoclast count Blindness Anemia Wide nose Small for gestational age Sparse scalp hair Trigonocephaly Broad philtrum Sagittal craniosynostosis Small pituitary gland Sparse hair Short philtrum Broad forehead Arachnodactyly Overweight Bulbous nose Sleep disturbance Narrow forehead Hypotelorism Low posterior hairline Short palpebral fissure Exotropia Large hands Long fingers Tall chin


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