Hyperreflexia, and Craniosynostosis

Diseases related with Hyperreflexia and Craniosynostosis

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

Top matches:

Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.

AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY Is also known as mcph|premature chromosome condensation with microcephaly and mental retardation|pcc syndrome|true microcephaly|premature chromosome condensation syndrome|microcephalia vera|microcephaly vera

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY

Low 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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA

Other less relevant matches:

Low match SOTOS SYNDROME

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

SOTOS SYNDROME Is also known as cerebral gigantism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about SOTOS SYNDROME

Low match MUENKE SYNDROME

Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE SYNDROME

Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.

ADENYLOSUCCINATE LYASE DEFICIENCY Is also known as adenylosuccinate lyase deficiency|adenylosuccinase deficiency|adsl deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ADENYLOSUCCINATE LYASE DEFICIENCY

Low match CANAVAN DISEASE

CANAVAN DISEASE Is also known as spongy degeneration of central nervous system|aminoacylase 2 deficiency|asp deficiency|aspartoacylase deficiency|aspa deficiency|acy2 deficiency|canavan-van bogaert-bertrand disease

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CANAVAN DISEASE

Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5

Top 5 symptoms//phenotypes associated to Hyperreflexia and Craniosynostosis

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Low-set ears Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Muscular hypotonia High palate Macrocephaly Nystagmus Hearing impairment Growth delay Short stature Frontal bossing Cerebellar atrophy Delayed speech and language development Feeding difficulties in infancy Anteverted nares Opisthotonus Hypsarrhythmia Thin upper lip vermilion Micrognathia Cognitive impairment Hypertelorism Generalized-onset seizure Cerebral atrophy Brachydactyly Prominent forehead Feeding difficulties Ventriculomegaly

Rare Symptoms - Less than 30% cases

Downslanted palpebral fissures Anxiety Febrile seizures Cryptorchidism Neoplasm Scoliosis Cone-shaped epiphyses of the phalanges of the hand Impulsivity Progressive microcephaly Prominent nose Broad nasal tip Brain atrophy Mandibular prognathia Short attention span Developmental regression Dental malocclusion Hypoplasia of the corpus callosum Hypertonia Abnormality of the skeletal system Dysphagia Hypertension Encephalopathy Autism Trigonocephaly Hypospadias CNS hypomyelination Abnormality of the fingernails Brisk reflexes Abnormal cardiac septum morphology Clinodactyly Coarse facial features Brachycephaly Conductive hearing impairment EEG abnormality Intrauterine growth retardation Abnormal facial shape Kyphoscoliosis Aggressive behavior Poor speech Hypermetropia Apnea Osteopenia Recurrent infections Syndactyly Visual impairment Flexion contracture Triangular face Gastroesophageal reflux Unilateral renal agenesis Inability to walk Postnatal growth retardation Spastic tetraplegia Smooth philtrum Vesicoureteral reflux Tetraplegia Intellectual disability, moderate Upslanted palpebral fissure Wide mouth Intellectual disability, severe Ptosis Babinski sign Hyperactivity Autistic behavior Vomiting Inguinal hernia Limb undergrowth Intellectual disability, profound Apraxia Varicocele Persistent left superior vena cava Bulbous nose Abnormality of the hand Expressive language delay Interphalangeal joint contracture of finger Congenital pseudoarthrosis of the clavicle Short upper lip Spinal dysraphism Hirsutism Pseudoarthrosis Nephrocalcinosis Thin vermilion border Low posterior hairline Small hand Enlarged naris Short palpebral fissure Congenital posterior urethral valve Finger clinodactyly Generalized hirsutism Recurrent otitis media Short thumb Joint hyperflexibility Long eyelashes Epididymal cyst Downturned corners of mouth Proportionate short stature Stiff neck Enuresis Sprengel anomaly Lipoma Short columella Abnormality of the clavicle Hypoplasia of penis Microdontia Celiac disease High pitched voice Preauricular pit Otitis media Underdeveloped nasal alae Broad thumb Hypoplasia of the maxilla Villous atrophy Coarctation of aorta Clubbing 11 pairs of ribs Enlarged joints Language impairment Speech apraxia Abnormality of the voice Nasal speech Hyperextensibility of the finger joints Broad columella Short clavicles Tethered cord Self-mutilation Curved fingers Aplasia/Hypoplasia involving the central nervous system Corneal opacity Broad forehead Protruding ear Hernia Talipes equinovarus Cataract Nasal regurgitation Congenital cataract Decerebrate rigidity Vegetative state Homocystinuria CNS demyelination Delayed closure of the anterior fontanelle Reduced consciousness/confusion Megalencephaly Hip dislocation Oligohydramnios Oral-pharyngeal dysphagia Premature skin wrinkling Atrophy/Degeneration affecting the brainstem Infantile spasms Epileptic encephalopathy Coloboma Small foramen magnum Dermal translucency Calcaneovalgus deformity Spinal canal stenosis Thin skin Reduced subcutaneous adipose tissue Delayed cranial suture closure Adducted thumb Cutis laxa Aortic regurgitation Spontaneous abortion Wormian bones Abnormality of visual evoked potentials Hyperkinesis Broad fingertip Gait ataxia Cerebellar vermis atrophy Poor eye contact Flat occiput Stereotypy Postnatal microcephaly Severe global developmental delay Myoclonus Epileptic spasms Absent speech Long philtrum Short nose Skeletal muscle atrophy Mesocardia Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Prominent metopic ridge Small for gestational age Poor head control Paralysis Cerebral palsy Aspiration Leukodystrophy Abnormality of retinal pigmentation Peripheral demyelination Aciduria Sleep disturbance Irritability Cerebral hypomyelination Rigidity Blindness Optic atrophy Spasticity Hypointensity of cerebral white matter on MRI Inappropriate laughter Happy demeanor Malabsorption Hemimegalencephaly Neurological speech impairment Metaphyseal dysplasia Narrow greater sacrosciatic notches Hypoplasia of the capital femoral epiphysis Delayed ossification of carpal bones Hepatic cysts Severe combined immunodeficiency Dislocated radial head Disproportionate short stature Severe platyspondyly Neurodevelopmental delay Combined immunodeficiency Erythroderma Epiphyseal dysplasia Eosinophilia Coxa valga Cervical instability Behavioral abnormality Inflammatory abnormality of the skin Congenital hip dislocation Abnormality of the ureter Abnormality of immune system physiology Precocious puberty Genu varum Aplasia/Hypoplasia of the corpus callosum Accelerated skeletal maturation Tall stature Obesity Depressed nasal ridge Genu valgum Dolichocephaly Hypoglycemia Macrotia High forehead Patent ductus arteriosus Lymphopenia Decreased antibody level in blood Advanced eruption of teeth Mild microcephaly Severe short stature Increased rate of premature chromosome condensation Small cerebral cortex Hypoplasia of the frontal lobes Bird-like facies Abnormal cortical bone morphology Chromosome breakage Abnormality of the liver Hypergonadotropic hypogonadism Pachygyria Heterotopia Sloping forehead Hypogonadism Agenesis of corpus callosum Cerebral cortical atrophy Astigmatism Full cheeks Pectus excavatum Single transverse palmar crease Anal atresia Platyspondyly Muscular hypotonia of the trunk Abnormality of the nervous system Skeletal dysplasia Immunodeficiency Joint hypermobility Kyphosis Depressed nasal bridge Motor delay Hypopnea Cutaneous syndactyly Knee flexion contracture Flat face Multiple renal cysts Renal duplication Prominent nasal bridge Thimble-shaped middle phalanges of hand Abnormality of the dentition Atrial septal defect Short neck Gait disturbance Wide nasal bridge Dysarthria Low-frequency sensorineural hearing impairment Headache Unicoronal synostosis Short middle phalanx of toe Bicoronal synostosis Capitate-hamate fusion Synostosis of carpals/tarsals Craniofacial asymmetry Intellectual disability, mild Dilatation Lambdoidal craniosynostosis Hydronephrosis Short philtrum Camptodactyly of finger Joint stiffness Telecanthus Joint laxity Arthritis Deeply set eye Abnormality of cardiovascular system morphology Umbilical hernia Hypothyroidism Posteriorly rotated ears Constipation Clinodactyly of the 5th finger Delayed skeletal maturation Abnormal heart morphology Parietal foramina Abnormality of the head Neoplasm of the nervous system Short palm Bradycardia Epidermal acanthosis Bilateral sensorineural hearing impairment Hypopigmentation of the skin Short foot High, narrow palate Proptosis Plagiocephaly Midface retrusion Malar flattening Hydrocephalus Respiratory insufficiency Ventricular septal defect Sensorineural hearing impairment Sacrococcygeal teratoma Low anterior hairline Acanthosis nigricans Anterior plagiocephaly Hypopigmentation of hair Oxycephaly Aqueductal stenosis Upper airway obstruction Coronal craniosynostosis Carpal synostosis Esophageal atresia Tarsal synostosis Hypopigmented skin patches Hypermelanotic macule Broad hallux Short middle phalanx of finger Tracheoesophageal fistula Radial deviation of finger Cone-shaped epiphysis Increased intracranial pressure Small anterior fontanelle


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and Proptosis, related diseases and genetic alterations Fever and Confusion, related diseases and genetic alterations