Immunodeficiency, and Frontal bossing

Diseases related with Immunodeficiency and Frontal bossing

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


Top matches:

High match PILAROWSKI-BJORNSSON SYNDROME; PILBOS


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

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

High match MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME


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

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Other less relevant matches:

High match ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT


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

High match X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

High match HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT


Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hies, autosomal dominant|hyper-ige syndrome, autosomal dominant|job syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • High palate
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

High match SANJAD-SAKATI SYNDROME


Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

High match SYNDROMIC DIARRHEA


Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

High match ALBERS-SCHÖNBERG OSTEOPETROSIS


Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

High match ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME


Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Top 5 symptoms//phenotypes associated to Immunodeficiency and Frontal bossing

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Immunodeficiency and Frontal bossing. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Ectodermal dysplasia Respiratory tract infection Recurrent respiratory infections Hypertelorism Prominent forehead Failure to thrive Depressed nasal bridge Abnormality of the dentition Pneumonia Macrocephaly Dry skin Proptosis Scoliosis Long philtrum Eczema Hepatosplenomegaly Sparse hair Ventriculomegaly Pancytopenia Generalized hypotonia Cryptorchidism Heat intolerance Abnormal facial shape Autism Hypohidrosis Intrauterine growth retardation Recurrent bacterial infections

Rare Symptoms - Less than 30% cases


Dilatation Abnormality of dental enamel Brittle hair Hypocalcemia Intellectual disability, severe Feeding difficulties Intestinal obstruction Hyperhidrosis Depressed nasal ridge Hypotrichosis Short distal phalanx of finger Absent eyebrow Severe short stature Bifid uvula Mandibular prognathia Fractures of the long bones Urticaria Hemivertebrae Recurrent fractures Wide nose Microcephaly Micrognathia Erythema Deeply set eye Low-set ears Osteoporosis Rhinitis Hypoplasia of the corpus callosum Abnormality of the skeletal system Wide nasal bridge Microphthalmia Strabismus Delayed skeletal maturation Anhidrotic ectodermal dysplasia Corneal opacity Small for gestational age Astigmatism Absent eyelashes Periorbital wrinkles Respiratory distress Nystagmus Postnatal growth retardation Fever Short nose Microtia Autistic behavior Posteriorly rotated ears Hearing impairment Delayed speech and language development Broad forehead Abnormality of the hair Hernia Facial asymmetry Edema Diarrhea Arthritis Thrombocytopenia Anemia Developmental regression Hypodontia Anhidrosis Conical tooth Fine hair Downslanted palpebral fissures Sparse scalp hair Chronic diarrhea Abnormality of the pancreas Abnormal thrombocyte morphology Lumbar scoliosis Peripheral pulmonary artery stenosis Tooth abscess Large forehead Mandibular osteomyelitis Abnormality of the vertebral endplates Muscular hypotonia Trichorrhexis nodosa Villous atrophy Osteomyelitis Elevated serum acid phosphatase Woolly hair Hyperostosis Thrombocytosis Aseptic necrosis Osteopetrosis Abnormal cranial nerve morphology Facial paralysis Generalized osteosclerosis Extramedullary hematopoiesis Hip osteoarthritis Abnormal leukocyte morphology Cranial hyperostosis Underdeveloped supraorbital ridges Increased susceptibility to fractures Joint dislocation Increased mean platelet volume Visual loss Neurodegeneration Abnormality of iron homeostasis Genu valgum Carious teeth Paralysis Facial palsy Blindness Abnormality of the metaphysis Large placenta Abnormalities of placenta or umbilical cord Flexion contracture Hydrocephalus Optic atrophy Visual impairment Muscle weakness Osteoarthritis Galactosuria Intermittent diarrhea Secretory diarrhea Intractable diarrhea Abnormality of pelvic girdle bone morphology Abnormality of the metacarpal bones Cranial nerve paralysis Bone marrow hypocellularity Increased bone mineral density Hypergalactosemia Humoral immunodeficiency Increased serum iron Bone pain Renal cortical microcysts Lymphedema Abnormality of epiphysis morphology Recurrent urinary tract infections Hypermethioninemia Cleft palate Palmoplantar keratoderma Myopia Ectrodactyly Abnormal eyelid morphology Abnormal eyelash morphology Blepharitis Alopecia of scalp Parakeratosis Uveitis Submucous cleft hard palate Oligodactyly Atonic seizures Follicular hyperkeratosis Congenital ichthyosiform erythroderma Abnormality of the vertebral column Absent septum pellucidum Mixed hearing impairment Hydroureter Keratitis Bifid scrotum Unilateral renal agenesis Erythroderma Corneal erosion Hypoplastic fingernail Scaling skin Abnormality of temperature regulation Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormal nasolacrimal system morphology Recurrent corneal erosions Subcortical cerebral atrophy Corneal scarring Abnormality of the upper urinary tract Cheilitis Alopecia universalis Oxycephaly Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Psoriasiform dermatitis Abnormality of the hand Kyphosis Photophobia Papule Hip dislocation Camptodactyly of finger Scarring Camptodactyly Abnormality of the kidney Mental deterioration Hydronephrosis Umbilical hernia Platyspondyly Macrotia Hyperkeratosis Polydactyly Cerebral cortical atrophy Dementia Agenesis of corpus callosum Cerebellar hypoplasia Alopecia Inguinal hernia Nail dystrophy Talipes Plagiocephaly Choanal atresia Opacification of the corneal stroma Conjunctivitis Multicystic kidney dysplasia Abnormality of the nail Abnormal vertebral morphology Hypoplasia of dental enamel Renal dysplasia Aganglionic megacolon Omphalocele Epidermal acanthosis Ichthyosis Abnormality of the ribs Oligohydramnios Postaxial hand polydactyly Specific learning disability Nail dysplasia Brain atrophy Curly hair Postaxial polydactyly Pulmonary hypoplasia Iron deficiency anemia Delayed myelination Abnormality of the immune system Sparse body hair Absent nipple Concave nail Anterior hypopituitarism Anodontia Taurodontia Soft skin Hypoplastic nipples Agenesis of permanent teeth Abnormal oral mucosa morphology Aplasia/Hypoplasia of the eyebrow Prominent supraorbital ridges Dysphonia Sparse eyelashes Short chin Type I diabetes mellitus Hoarse voice Hypohidrotic ectodermal dysplasia Everted upper lip vermilion Thin skin Cough Thick lower lip vermilion Otitis media Prominent nose Lymphoma Asthma Joint hypermobility Pruritus Skin rash Periorbital hyperpigmentation Craniosynostosis Coarse facial features Osteopenia Constipation Dysphagia High palate Hypoplastic-absent sebaceous glands Aplasia/Hypoplastia of the eccrine sweat glands Sparse and thin eyebrow Microdontia Sinusitis Absent speech Attention deficit hyperactivity disorder Obesity Midface retrusion Neoplasm Tall stature Febrile seizures Abnormality of the foot Epicanthus Decreased antibody level in blood Motor delay Broad eyebrow Dermal translucency Periorbital fullness Speech apraxia Pointed chin Apraxia Lymphadenopathy Lymphopenia Underdeveloped nasal alae Recurrent infection of the gastrointestinal tract Hypoplasia of the maxilla Delayed eruption of teeth Everted lower lip vermilion Thick vermilion border Hypertension Defective production of NFKB1-dependent cytokines Aplasia of the sweat glands Lymphocytosis Combined immunodeficiency Concave nasal ridge Agammaglobulinemia Leukocytosis Bronchiectasis Postnatal macrocephaly Increased head circumference Severe combined immunodeficiency Biparietal narrowing Inflammatory abnormality of the skin Skin ulcer Hypoalbuminemia Aplasia/Hypoplasia affecting the eye Ventricular septal defect Hepatomegaly Cognitive impairment Patchy osteosclerosis Congenital hypoparathyroidism Hypocalcemic seizures Cellular immunodeficiency Tetany Abnormal heart morphology Decreased circulating cortisol level Hyperphosphatemia Hypoparathyroidism Severe intrauterine growth retardation External ear malformation Spinal canal stenosis Hypoplasia of penis Anteverted nares Narrow mouth Growth hormone deficiency Sepsis Recurrent upper respiratory tract infections Leukopenia Aortic regurgitation Hepatic fibrosis Tetralogy of Fallot Aciduria Premature birth Hepatic failure Polyhydramnios Cirrhosis Delayed puberty Pulmonic stenosis Abnormality of the liver Wide mouth Abnormality of the pinna Elevated hepatic transaminase Jaundice Convex nasal ridge Short foot Eosinophilia Verrucae Recurrent fungal infections B lymphocytopenia Persistence of primary teeth Decrease in T cell count Red hair Increased IgE level Recurrent sinopulmonary infections Hemihypertrophy Eczematoid dermatitis Chronic mucocutaneous candidiasis Recurrent bronchitis Atopic dermatitis Recurrent sinusitis Bronchitis Squamous cell carcinoma Chronic otitis media Recurrent skin infections T-cell lymphoma Recurrent bacterial skin infections Small hand Hypogonadism Short palm Thin vermilion border Low-set, posteriorly rotated ears Muscular hypotonia of the trunk Thin upper lip vermilion High forehead Micropenis Myopathy Onychomycosis Impaired neutrophil chemotaxis Squamous cell carcinoma of the vulva Anal canal squamous carcinoma Lung abscess Opportunistic infection Recurrent candida infections Recurrent Staphylococcus aureus infections Severe viral infections Unilateral chest hypoplasia



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