Frontal bossing, and Decreased antibody level in blood

Diseases related with Frontal bossing and Decreased antibody level in blood

In the following list you will find some of the most common rare diseases related to Frontal bossing and Decreased antibody level in blood that can help you solving undiagnosed cases.

Top matches:

A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Frontal bossing
  • Diarrhea


SOURCES: OMIM MESH MENDELIAN

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). Genetic Heterogeneity of Autosomal Recessive OsteopetrosisOther forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (OMIM ), which is caused by mutation in the CLCN7 gene (OMIM ) on chromosome 16p13, and OPTB5 (OMIM ), which is caused by mutation in the OSTM1 gene (OMIM ) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2 ) is caused by mutation in the TNFSF11 gene (OMIM ) on chromosome 13q14, an intermediate form (OPTB6 ) is caused by mutation in the PLEKHM1 gene (OMIM ) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7 ) is caused by mutation in the TNFRSF11A gene (OMIM ) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8 ) is caused by mutation in the SNX10 gene (OMIM ) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3 ) is caused by mutation in the CA2 gene (OMIM ) on chromosome 8q21.Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, {607634}).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 Is also known as marble bones, autosomal recessive|osteopetrosis, infantile malignant 1|albers-schonberg disease, autosomal recessive

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

Other less relevant matches:

Medium match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Smith-Kingsmore syndrome is a rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip (Smith et al., 2013; Baynam et al., 2015).

MACROCEPHALY-INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER-SMALL THORAX SYNDROME Is also known as minds syndrome|macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism|macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome|smith-kingsmore syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER-SMALL THORAX SYNDROME

Medium match 3C SYNDROME

Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C SYNDROME

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

Medium match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Medium match JACOBSEN SYNDROME

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

POIKILODERMA WITH NEUTROPENIA Is also known as poikiloderma with neutropenia, clericuzio type|poikiloderma with neutropenia, clericuzio-type

Related symptoms:

  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about POIKILODERMA WITH NEUTROPENIA

Top 5 symptoms//phenotypes associated to Frontal bossing and Decreased antibody level in blood

Symptoms // Phenotype % cases
Macrocephaly Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Frontal bossing and Decreased antibody level in blood. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Recurrent infections Short nose Feeding difficulties Hydrocephalus Ventriculomegaly Recurrent respiratory infections Failure to thrive Growth delay Hepatosplenomegaly Downslanted palpebral fissures Seizures Micrognathia Hearing impairment Midface retrusion Optic atrophy Pneumonia Broad forehead Delayed speech and language development Low-set ears Scoliosis Prominent forehead Strabismus Pancytopenia Abnormal facial shape Cataract Muscular hypotonia Intrauterine growth retardation Wide nasal bridge Hand polydactyly Splenomegaly Motor delay Progressive macrocephaly Hepatomegaly Neurological speech impairment Atrial septal defect Neoplasm Kyphosis Brachydactyly Short neck Long philtrum Intellectual disability, moderate Respiratory tract infection Coloboma Intellectual disability, mild Otitis media High forehead Hypothyroidism Inguinal hernia Hernia Growth hormone deficiency Iris coloboma Dilatation Cognitive impairment

Rare Symptoms - Less than 30% cases

Syndactyly Abnormality of cardiovascular system morphology Cryptorchidism Hypospadias Patent ductus arteriosus Umbilical hernia Thrombocytopenia Hypoglycemia Thin upper lip vermilion Diastasis recti Narrow chest Smooth philtrum Polymicrogyria Ventricular septal defect Abnormality of the skeletal system Asthma Limb undergrowth Cafe-au-lait spot Flexion contracture Megalencephaly Microcephaly Intestinal polyp Abnormal heart morphology Narrow palate Alopecia Macroglossia Epicanthus Myopia Skeletal muscle atrophy Myopathy Abnormality of the dentition Behavioral abnormality Malar flattening Cerebral atrophy Mandibular prognathia Osteopenia Amblyopia Pain Increased intracranial pressure Heart murmur Flat occiput Hydrocele testis Pectus excavatum Leukemia Palmoplantar keratoderma Skin rash Eczema Wheezing Spasticity Muscle weakness Skeletal dysplasia Intestinal malrotation Hydronephrosis Abnormality of the kidney Camptodactyly Feeding difficulties in infancy Postnatal growth retardation Abnormal cardiac septum morphology Finger syndactyly Toe syndactyly Anal atresia Postural instability Aortic valve stenosis Sensorineural hearing impairment Horseshoe kidney Scaphocephaly Chorioretinal coloboma Hypoplastic left heart Atrioventricular canal defect Double outlet right ventricle Missing ribs Ectopic anus Mitral stenosis Ataxia Fibroma Talipes equinovarus Nystagmus Diarrhea Hypoplasia of the corpus callosum Autism Attention deficit hyperactivity disorder Dolichocephaly Small for gestational age Chronic diarrhea Hypodontia Type II diabetes mellitus Sparse hair Hypogonadism Arthritis Depressivity Congestive heart failure High palate Overgrowth Bone marrow hypocellularity Carious teeth Lymphopenia Dysarthria Cellular immunodeficiency Multiple lipomas Ovarian neoplasm Hyperthyroidism Hamartoma Subcutaneous lipoma Acute myeloid leukemia Abnormality of the penis Multiple cafe-au-lait spots Cellulitis Cystic hygroma Abnormality of the thyroid gland Adenoma sebaceum Angioid streaks of the fundus Macule Cutis marmorata Ovarian carcinoma Thyroid adenoma Melanocytic nevus Varicocele Long penis Follicular thyroid carcinoma Colonic diverticula Thyroiditis Bone cyst Skin tags Intestinal polyposis Ovarian cyst Enlarged polycystic ovaries Astrocytoma Papilloma Abnormality of the uterus Furrowed tongue Arteriovenous malformation Meningioma Prolactin excess Cavernous hemangioma Hamartomatous polyposis Generalized hyperkeratosis Neoplasm of the central nervous system Papilledema Abnormality of the vasculature Lipoma Hashimoto thyroiditis Renal cell carcinoma Decreased proportion of CD4-positive T cells Hodgkin lymphoma High pitched voice Intracranial hemorrhage Increased hepatic glycogen content Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae 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 Generalized abnormality of skin Increased vertebral height Headache Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Tremor Lymphadenopathy Dysdiadochokinesis Exotropia Endometrial carcinoma Palmoplantar hyperkeratosis Goiter Breast carcinoma Melanoma Hypopigmented skin patches Hemangioma Drooling Cranial nerve paralysis Neoplasm of the skin Gynecomastia Telangiectasia Narrow mouth Subcutaneous nodule Broad thumb Intention tremor Lymphoma Abnormal cerebellum morphology Hypoplasia of the maxilla Autistic behavior Joint hypermobility Nausea and vomiting Papule Carcinoma Proximal muscle weakness Incoordination Fibroadenoma of the breast Colorectal polyposis Duodenal atresia U-Shaped upper lip vermilion Urethral stenosis Long hallux Abnormality of the head Nasolacrimal duct obstruction Broad columella Abnormal thrombocyte morphology Labial hypoplasia Aplasia/Hypoplasia of the earlobes Nuclear cataract Broad hallux phalanx Eyelid coloboma Clitoral hypoplasia Chronic constipation Retinal dysplasia Abnormal eyelash morphology Bipolar affective disorder Fever Transposition of the great arteries Natal tooth Slender finger Partial agenesis of the corpus callosum Aplasia/Hypoplasia of the eyebrow Hammertoe Central hypothyroidism Macular hypoplasia Trigonocephaly Nail dystrophy Poikiloderma Osteosarcoma Blepharitis Atrophic scars Increased antibody level in blood Myelodysplasia Conjunctivitis Recurrent pneumonia Recurrent otitis media Cutaneous photosensitivity Neutropenia Cough Giant platelets Hyperkeratosis Respiratory failure Abnormality of the curvature of the vertebral column Megakaryocyte dysplasia Congenital thrombocytopenia Bilateral camptodactyly Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Ectropion Pyloric stenosis Pseudopapilledema Multiple trichilemmomata Pes planus Retrognathia Osteoporosis Agenesis of corpus callosum Constipation Clinodactyly of the 5th finger Clinodactyly Microphthalmia Anteverted nares Ptosis Lobular carcinoma in situ Merkel cell skin cancer Low-set, posteriorly rotated ears Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Abnormality of the rib cage Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Telecanthus Craniosynostosis Schizophrenia Pachygyria Infantile muscular hypotonia Tachypnea Abnormal palate morphology Azoospermia Holoprosencephaly Multicystic kidney dysplasia Spina bifida Leukodystrophy Short toe Sinusitis Short thumb Abnormal form of the vertebral bodies Hip dislocation Coarctation of aorta Obesity Dehydration Microdontia Webbed neck Premature birth Microcornea Single transverse palmar crease Bruising susceptibility Tachycardia Talipes Facial asymmetry Abnormal cornea morphology Aseptic necrosis Craniofacial hyperostosis Glaucoma Prominent nasal bridge Ophthalmoparesis Flared metaphysis Osteomyelitis Pathologic fracture Hyperparathyroidism Cleft lip Renal tubular acidosis Retinal atrophy Gastroesophageal reflux Brachycephaly Coxa vara Cerebellar hypoplasia Osteopetrosis Choanal stenosis Facial paralysis Tetany Extramedullary hematopoiesis Secondary hyperparathyroidism Sandwich appearance of vertebral bodies Cardiomyopathy Edema Cleft palate Elevated alkaline phosphatase Pulmonic stenosis Short proximal phalanx of finger Preauricular skin tag Anemia Abnormality of neuronal migration Unilateral renal agenesis Aplasia/Hypoplasia of the cerebellum Blindness Visual loss Abnormality of the hand Acidosis Wormian bones Hemivertebrae Facial palsy Large fontanelles Hypocalcemia Cerebellar vermis hypoplasia Low posterior hairline Hypoplasia of penis Tetralogy of Fallot Dandy-Walker malformation Renal agenesis Aganglionic megacolon Bifid uvula Increased bone mineral density High, narrow palate Oral cleft Severe short stature Diabetes mellitus Mesomelia Hypoplastic frontal sinuses Pigmentary retinopathy Epidermal acanthosis Dental crowding Insulin resistance Increased body weight Pointed chin Acanthosis nigricans Reduced tendon reflexes Cachexia Pericardial constriction Constrictive pericarditis J-shaped sella turcica Nevus Absent frontal sinuses Peripheral edema Premature ovarian insufficiency Weak voice Prominent superficial veins Myocardial fibrosis Microglossia Nephroblastoma Insulin-resistant diabetes mellitus Pericarditis Slender long bone Cyanosis Abdominal distention Deep plantar creases Wide anterior fontanel Perisylvian polymicrogyria Deep palmar crease Breech presentation Preeclampsia Abnormality of the nervous system Retinopathy Arachnoid cyst IgA deficiency Curly hair Large for gestational age Short chin Rhizomelia EEG abnormality Open mouth Delayed puberty Renal cyst Infertility Short distal phalanx of finger Astigmatism Cirrhosis Ascites Triangular face Wide mouth Deeply set eye Prominent occiput Congenital glaucoma Spondylolisthesis Hip dysplasia Gingival overgrowth Increased head circumference Tall stature Bowing of the long bones Progressive neurologic deterioration Hypertrichosis Depressed nasal ridge Psychosis Optic disc pallor Peripheral demyelination Postnatal macrocephaly Hallucinations Dental malocclusion Delayed myelination Gliosis Progressive cerebellar ataxia Neurodegeneration Highly arched eyebrow Thick eyebrow Retinal degeneration Confusion Dysmetria Genu valgum Limb ataxia Spastic gait Hypermetropia Abnormality of the sternum Abnormality of the helix Reduced ejection fraction Dysostosis multiplex Impaired smooth pursuit Delusions Patellar dislocation Severe sensorineural hearing impairment Pulmonary fibrosis Limb dystonia Bronchitis Thickened calvaria Femoral bowing Low anterior hairline Neurodevelopmental delay Bowel incontinence Open bite Bowing of the legs Combined immunodeficiency Biparietal narrowing Chronic otitis media Prominent supraorbital ridges Severe combined immunodeficiency Widely spaced teeth Recurrent bacterial infections Abnormality of the foot Abnormality of the cerebral white matter Abnormality of the hip bone Abnormal mitral valve morphology Primum atrial septal defect Cerebellar malformation Humoral immunodeficiency Facial hemangioma Contractures of the large joints Posterior fossa cyst Abnormality of the fontanelles or cranial sutures Abnormal tricuspid valve morphology Lethal skeletal dysplasia Complete atrioventricular canal defect Aplasia/Hypoplasia of the nipples Hypoplastic fingernail Lymphocytosis Recurrent infection of the gastrointestinal tract Communicating hydrocephalus Enlarged cisterna magna Periorbital wrinkles Single umbilical artery Aplasia of the sweat glands Pierre-Robin sequence Defective production of NFKB1-dependent cytokines Adrenal hypoplasia Posterior embryotoxon Narrow nasal bridge Anhidrotic ectodermal dysplasia Concave nasal ridge Corneal opacity Ectodermal dysplasia Pectus carinatum Mental deterioration Anxiety Coarse facial features Kyphoscoliosis Macrotia Gait ataxia Babinski sign Delayed skeletal maturation Areflexia Dry skin Fine hair Conical tooth Sparse scalp hair Cerebellar atrophy Intellectual disability, severe Bronchiectasis Gait disturbance Hypohidrosis Anhidrosis Hyperreflexia Leukocytosis Agammaglobulinemia Heat intolerance Subungual hyperkeratosis


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