Immunodeficiency, and Thick eyebrow

Diseases related with Immunodeficiency and Thick eyebrow

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

Top matches:

High match MONOSOMY 22Q13

Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

MONOSOMY 22Q13 Is also known as 22q13 deletion|phelan-mcdermid syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 22Q13

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Other less relevant matches:

Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2017).

PILAROWSKI-BJORNSSON SYNDROME; PILBOS Is also known as developmental delay and speech apraxia with or without seizures

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PILAROWSKI-BJORNSSON SYNDROME; PILBOS

Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.

EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY Is also known as mcgrath syndrome|ectodermal dysplasia-skin fragility syndrome

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY

Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA; see this term), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.

ATAXIA-OCULOMOTOR APRAXIA TYPE 1 Is also known as aoa1|atld

Related symptoms:

  • Ataxia
  • Nystagmus
  • Neoplasm
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-OCULOMOTOR APRAXIA TYPE 1

COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM Is also known as cid-mia/early-onset ibd

Related symptoms:

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Immunodeficiency
  • Polyhydramnios
  • Sparse hair


SOURCES: ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM

15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

15Q14 MICRODELETION SYNDROME Is also known as del(15)(q14)|monosomy 15q14

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 15Q14 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Immunodeficiency and Thick eyebrow

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and Thick eyebrow. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of the dentition Epicanthus Deeply set eye Microcephaly Autism Pointed chin Dental malocclusion Hypermetropia Ventricular septal defect Hyperactivity Macrocephaly Hearing impairment Strabismus Highly arched eyebrow Gastroesophageal reflux Feeding difficulties Recurrent infections Long philtrum Ptosis Behavioral abnormality Dental crowding Muscular hypotonia Frontal bossing Motor delay Gait disturbance Growth delay Wide nasal bridge Long eyelashes Anxiety Macrotia Umbilical hernia Agenesis of corpus callosum Unsteady gait Clinodactyly of the 5th finger Bulbous nose Intellectual disability, moderate Malar flattening Atrial septal defect Scoliosis

Rare Symptoms - Less than 30% cases

Recurrent upper respiratory tract infections Ataxia Cerebellar atrophy Increased intracranial pressure Cataract Spasticity Hypertelorism Myopia Periorbital fullness Nystagmus Dysarthria Tall stature Hyperreflexia Prominent supraorbital ridges Low anterior hairline Kyphosis Abnormal cornea morphology Prominent nose Postnatal growth retardation Laryngomalacia Thin upper lip vermilion Polyhydramnios Narrow mouth Downslanted palpebral fissures Low-set ears Failure to thrive Neoplasm Short stature Impaired smooth pursuit Inguinal hernia Patellar dislocation Apraxia Narrow palate Hepatitis Otitis media Decreased antibody level in blood Progressive cerebellar ataxia Dysmetria Respiratory tract infection Gait ataxia Delayed skeletal maturation Chronic diarrhea Convex nasal ridge Hypoplastic toenails Pain Hyporeflexia Sleep disturbance Patent ductus arteriosus Full cheeks Midface retrusion Intellectual disability, mild Vesicoureteral reflux Renal dysplasia Hypohidrosis High palate Cognitive impairment Lymphedema EEG abnormality Recurrent pyelonephritis Accelerated skeletal maturation Hair-pulling Cerebellar cortical atrophy Bruxism Sacral dimple Arachnoid cyst Palpebral edema Recurrent skin infections Large hands Impaired pain sensation Constipation Ventriculomegaly Neonatal hypotonia Nausea and vomiting Obesity Dolichocephaly Hydronephrosis Abnormality of the pinna Autistic behavior Deviated nasal septum Premature thelarche Cafe-au-lait spot Narrow maxilla Large foramen magnum Agoraphobia Wide anterior fontanel Talon cusp Bifid uterus Spina bifida occulta Vascular ring Duplication of phalanx of hallux Dyscalculia Chorioretinal dystrophy Exotropia Overweight Stereotypy Developmental regression Hyperkeratosis Hyperhidrosis Alopecia Broad eyebrow Dermal translucency Speech apraxia Mitral regurgitation Plantar crease between first and second toes Hypoplasia of dental enamel Radial deviation of thumb terminal phalanx Abnormal number of teeth High axial triradius Papillary cystadenoma of the epididymis Aganglionic megacolon Enlarged tonsils Keloids Broad thumb Frontal upsweep of hair Bicuspid aortic valve Congenital glaucoma Broad hallux Delayed cranial suture closure Meningioma Short attention span Truncal obesity Hypoplastic iliac wing Low hanging columella Flared iliac wings Capillary hemangioma Neurofibromas Obstructive sleep apnea Dislocated radial head Neuroblastoma Shawl scrotum Self-mutilation Dyslexia Abnormality of refraction Duane anomaly Tethered cord Prominent fingertip pads Poor coordination Bimanual synkinesia Short upper lip Parietal foramina Abnormality of the cervical spine Facial grimacing Impulsivity Avascular necrosis of the capital femoral epiphysis Phonophobia Broad distal phalanx of finger Rhabdomyosarcoma Nasolacrimal duct obstruction Erythema Medulloblastoma Pheochromocytoma Low-set, posteriorly rotated ears Palmoplantar hyperkeratosis Pruritus Ectopic calcification Congenital cystic adenomatoid malformation of the lung Gastrointestinal atresia Jejunoileal ulceration Long face Everted lower lip vermilion Rectal abscess Bloody diarrhea Narrow forehead Intestinal atresia Abnormality of the ductus choledochus Tented upper lip vermilion Hypoplasia of the thymus Severe combined immunodeficiency Acne Alopecia of scalp Hashimoto thyroiditis Autoimmune hemolytic anemia Absent eyebrow Psoriasiform dermatitis Peritoneal abscess Recurrent abscess formation Biparietal narrowing Prominent nasal bridge High forehead Posteriorly rotated ears Abnormal cardiac septum morphology Short philtrum Cleft palate Thin eyebrow Delayed ability to walk Myopathic facies Eosinophilia Attention deficit hyperactivity disorder Smooth philtrum Oral cleft Oligodontia Narrow palpebral fissure Short palpebral fissure Hypsarrhythmia Microdontia Asthma Hypodontia Type I diabetes mellitus Thickened skin Hypotrichosis Fragile skin Dystonia Tremor Peripheral neuropathy Furrowed tongue Woolly hair Abnormal eyebrow morphology Absent eyelashes Blepharitis Skin vesicle Myoclonus Epiphora Scaling skin Cleft lip Abnormality of the nail Skin ulcer Abnormal blistering of the skin Ectodermal dysplasia Palmoplantar keratoderma Dry skin Renal insufficiency Abnormality of the nervous system Omphalocele Hypometric saccades Low posterior hairline Abdominal distention Nail dystrophy Autoimmunity Sparse hair Intrauterine growth retardation Medial flaring of the eyebrow Increased sensitivity to ionizing radiation Nephronophthisis Distal amyotrophy Gaze-evoked nystagmus Dysdiadochokinesis Oculomotor apraxia Telangiectasia Lower limb spasticity Frequent falls Cerebellar vermis hypoplasia Chorea Abnormal cerebellum morphology Intestinal malrotation Abnormality of the gingiva Coarctation of aorta Recurrent respiratory infections Hepatosplenomegaly Coarse facial features Skeletal dysplasia Osteopenia Kyphoscoliosis Mandibular prognathia Prominent forehead Babinski sign Mental deterioration Areflexia Depressivity Hernia Cerebral atrophy Splenomegaly Myopathy Intellectual disability, severe Hydrocephalus Arthritis Pectus carinatum Talipes equinovarus Gliosis Psychosis Pancytopenia Type II diabetes mellitus Optic disc pallor Peripheral demyelination Hip dysplasia Delayed myelination Macroglossia Broad forehead Neurodegeneration Retinal degeneration Confusion Genu valgum Abnormality of the foot Abnormality of the cerebral white matter Neurological speech impairment Corneal opacity Short neck Abnormality of the skeletal system Hypertrichosis Thick vermilion border Multicystic kidney dysplasia Cerebral visual impairment Nephrolithiasis Abnormality of the genital system Broad-based gait Renal cyst High, narrow palate Hepatic failure Abnormality of the outer ear Facial asymmetry Protruding ear Irritability Aggressive behavior Absent speech Headache Diarrhea Vomiting Short chin Poor head control Optic atrophy Toenail dysplasia Skeletal muscle atrophy Hepatomegaly Depressed nasal bridge Muscle weakness Sensorineural hearing impairment Fulminant hepatic failure Tongue thrusting Hyperorality Episodic vomiting Polycystic kidney dysplasia Delayed CNS myelination Concave nasal ridge Heat intolerance Abnormality of the periventricular white matter Poor eye contact Weak cry Cellulitis 2-3 toe syndactyly Depressed nasal ridge Progressive neurologic deterioration Hypoplasia of the maxilla Spinocerebellar tract disease in lower limbs Respiratory distress Dysphagia Hypertension Flexion contracture Cryptorchidism Abnormal facial shape Micrognathia Flattened moderately deformed vertebrae Hypospadias Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Syndactyly Pectus excavatum Increased hepatic glycogen content Coloboma Recurrent fractures Single transverse palmar crease Iris coloboma Hirsutism Joint hypermobility Pulmonic stenosis Leukemia Feeding difficulties in infancy Arrhythmia Abnormality of the kidney Joint laxity Pes planus Retrognathia Proptosis Polydactyly Glaucoma Abnormal heart morphology Generalized abnormality of skin Increased vertebral height Bowing of the long bones Flat occiput Thickened calvaria Abnormality of the sternum Femoral bowing Neurodevelopmental delay Bowel incontinence Open bite Bowing of the legs Heart murmur Limb dystonia Chronic otitis media Widely spaced teeth Recurrent bacterial infections Spastic gait Hallucinations Limb ataxia Gingival overgrowth Amblyopia Bronchitis Aseptic necrosis Spondylolysis Abnormal echocardiogram Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Synovitis Severe sensorineural hearing impairment Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Reduced ejection fraction Hydrocele testis Dysostosis multiplex Delusions Everted upper lip vermilion


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