Macrocephaly, and Recurrent respiratory infections

Diseases related with Macrocephaly and Recurrent respiratory infections

In the following list you will find some of the most common rare diseases related to Macrocephaly and Recurrent respiratory infections that can help you solving undiagnosed cases.

Top matches:

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.

FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME Is also known as fils syndrome

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Macrocephaly
  • Malar flattening


SOURCES: ORPHANET OMIM MENDELIAN

More info about FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME

Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.

AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS Is also known as autosomal dominant spondylocostal dysplasia

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS

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

Other less relevant matches:

Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about LENNOX-GASTAUT SYNDROME

Low match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia (see this term).

LIGNEOUS CONJUNCTIVITIS Is also known as conjunctivitis lignosa

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Macrocephaly
  • Hydrocephalus
  • Blindness


SOURCES: ORPHANET MENDELIAN

More info about LIGNEOUS CONJUNCTIVITIS

Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.

AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS Is also known as vertebral anomalies|jarcho-levin syndrome|spondylothoracic dysplasia|spondylothoracic dysostosis|costovertebral dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS

Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

ATELOSTEOGENESIS TYPE I Is also known as mecp2 duplication syndrome|aoi|giant cell chondrodysplasia|mental retardation, x-linked, with recurrent respiratory infections|spondylo-humero-femoral dysplasia|atelosteogenesis type 1|mental retardation, x-linked, syndromic, lubs type|ao1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE I

Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (OMIM ).

SANDHOFF DISEASE, INFANTILE FORM Is also known as infantile gm2 gangliosidosis 0 variant|hexosaminidases a and b deficiency|hexosaminidases a and b deficiency, infantile form|gm2-gangliosidosis, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SANDHOFF DISEASE, INFANTILE FORM

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

Top 5 symptoms//phenotypes associated to Macrocephaly and Recurrent respiratory infections

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Respiratory tract infection Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Recurrent pneumonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Macrocephaly and Recurrent respiratory infections. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Anteverted nares Short stature Neurodegeneration High forehead Low-set ears Malar flattening Recurrent infections Severe short stature Pneumonia Short neck Hypertelorism Cryptorchidism Short nose Scoliosis Microcephaly Relative macrocephaly Downslanted palpebral fissures Generalized hypotonia

Rare Symptoms - Less than 30% cases

Respiratory failure Dysphagia Aggressive behavior Stereotypy Anxiety Tented upper lip vermilion Intellectual disability, severe Abnormality of the dentition Respiratory insufficiency Abnormal facial shape Gastroesophageal reflux Autistic behavior Gingival overgrowth Hypospadias Umbilical hernia Hepatomegaly Macroglossia Blindness Hyperreflexia Hepatosplenomegaly Long philtrum Cleft palate Immunodeficiency Spina bifida occulta Short thorax Ataxia Prominent occiput Vertebral segmentation defect Hyperlordosis Abnormality of female internal genitalia Broad forehead Abnormality of the ribs Wide nasal bridge Intrauterine growth retardation Delayed speech and language development Frontal bossing Abnormality of cardiovascular system morphology Hostility Infantile axial hypotonia Central hypoventilation Hearing impairment Bruxism Muscle weakness Chronic constipation Peripheral neuropathy Facial hypotonia Brachycephaly Rib segmentation abnormalities Spasticity Hypoventilation Abnormality of the odontoid process Dysarthria Block vertebrae Skeletal muscle atrophy Cervical C2/C3 vertebral fusion Babinski sign Dementia Hyperhidrosis Cerebral cortical atrophy Coarse facial features Paralysis Central hypotonia Poor head control Poor eye contact Severe global developmental delay Autism Constipation Patent ductus arteriosus Hypothyroidism Depressivity Absent speech Macrotia Rigidity Muscular hypotonia of the trunk Urinary incontinence Abnormality of metabolism/homeostasis Midface retrusion Developmental regression Poor speech Progressive spasticity Chorea Intellectual disability, profound Aganglionic megacolon Lower limb spasticity Aspiration Severe muscular hypotonia Drooling Infantile muscular hypotonia Optic nerve hypoplasia Myopathy Narrow mouth Premature ovarian insufficiency Myotonia Progressive cerebellar ataxia Muscular hypotonia Cardiomegaly Flat occiput Short metacarpal Limb undergrowth Blue sclerae Abnormality of the metaphysis Broad thumb Large fontanelles Abnormality of epiphysis morphology Rhizomelia Wide anterior fontanel Disproportionate short-limb short stature Short long bone Prominent supraorbital ridges Metaphyseal irregularity Hypophosphatemia Short foot Protuberant abdomen Bell-shaped thorax Delayed epiphyseal ossification Flat acetabular roof Metaphyseal cupping Renal phosphate wasting Hypoplastic ischia Hypoplastic vertebral bodies Vertebral hypoplasia Anterior rib cupping Hypoplastic pubic bone Abnormally ossified vertebrae Squared iliac bones Severe platyspondyly Tapered finger Small hand Psychosis Cherry red spot of the macula Progressive neurologic deterioration Chronic diarrhea Hypohidrosis Fasciculations Hemiplegia Emotional lability Impotence Orthostatic hypotension Episodic abdominal pain Megalencephaly Supranuclear gaze palsy Motor deterioration Upper motor neuron dysfunction Progressive psychomotor deterioration Abnormality of glycosphingolipid metabolism Short palm Impaired thermal sensitivity Urogenital fistula Brachydactyly Edema Splenomegaly Pectus excavatum Delayed skeletal maturation Polyhydramnios Skeletal dysplasia Joint stiffness Wide mouth Platyspondyly Narrow chest Micromelia Abnormality of the intervertebral disk Cervicitis Anomalous pulmonary venous return CNS infection Falls Generalized myoclonic seizures Focal-onset seizure Epileptic encephalopathy Intellectual disability, progressive Atonic seizures Abnormality of the periventricular white matter Enlarged cisterna magna Generalized tonic seizures Abnormality of brainstem morphology Personality disorder Atypical absence seizures Frontotemporal cerebral atrophy EEG with focal sharp slow waves Mental deterioration Failure to thrive Micrognathia Anemia Epicanthus Diarrhea Malabsorption Flat face Sepsis Decreased antibody level in blood Otitis media Bronchiectasis Sinusitis Lymphopenia Generalized tonic-clonic seizures EEG abnormality Combined immunodeficiency Prominent forehead Pain Autoimmunity Telangiectasia Bone pain Meningitis Telangiectases of the cheeks Upslanted palpebral fissure Missing ribs Abnormal sacrum morphology Posterior rib fusion High palate Clinodactyly Clinodactyly of the 5th finger Mandibular prognathia Hyperactivity Retrognathia Craniosynostosis Broad nasal tip Finger clinodactyly Microretrognathia Scaphocephaly Ptosis Hypoplasia of the corpus callosum Behavioral abnormality Cerebral atrophy Encephalopathy Posteriorly rotated ears Myoclonus Malnutrition Bronchitis Rib fusion Finger syndactyly Abnormality of the mediastinum Abnormality of fontanelles Chronic irritative conjunctivitis Vaginitis Atrial septal defect Congestive heart failure Kyphosis Hernia Inguinal hernia Polydactyly Kyphoscoliosis Low-set, posteriorly rotated ears Camptodactyly of finger Confusion Gastrointestinal inflammation Congenital diaphragmatic hernia Abnormal form of the vertebral bodies Abnormal vertebral morphology Spina bifida Hemivertebrae Scapular winging Abnormality of the urinary system Preaxial polydactyly Abnormality of immune system physiology Abnormality of the ureter Double outlet right ventricle Meningocele Disproportionate short-trunk short stature Abnormality of the gallbladder Duodenal ulcer Protruding tongue Recurrent otitis media Shawl scrotum Agammaglobulinemia Communicating hydrocephalus Chronic bronchitis Cellular immunodeficiency Abnormality of chromosome stability Decrease in T cell count Abnormality of neutrophils Impaired T cell function Hydrocephalus Cerebellar hypoplasia Papule Dandy-Walker malformation Nephrolithiasis Keratoconjunctivitis Conjunctivitis Abnormality of vision Recurrent upper respiratory tract infections Nephritis Epiphora Premature loss of teeth Gingivitis Periodontitis Recurrent bronchitis Hypercoagulability Abnormality of the larynx Stomatitis Recurrent pharyngitis Poor wound healing Posterior rib cupping


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