Frontal bossing, and Neutropenia

Diseases related with Frontal bossing and Neutropenia

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


Top matches:

High match ROTHMUND-THOMSON SYNDROME TYPE 2


Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.

ROTHMUND-THOMSON SYNDROME TYPE 2 Is also known as poikiloderma of rothmund-thomson type 2|rts2

Related symptoms:

  • Growth delay
  • Cataract
  • Anemia
  • Frontal bossing
  • Diarrhea


SOURCES: ORPHANET MENDELIAN

More info about ROTHMUND-THOMSON SYNDROME TYPE 2

High match POIKILODERMA WITH NEUTROPENIA


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

High match PELGER-HUET ANOMALY; PHA


Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

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Other less relevant matches:

Medium match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Medium match HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER


Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Medium match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Medium 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

Medium match HOLT-ORAM SYNDROME; HOS


Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

Low 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

Low 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

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pneumonia Global developmental delay Eczema Fatigue Skin rash Cataract Depressed nasal bridge Fever Anemia Diarrhea Strabismus Asthma Abnormality of the skeletal system Cough Lymphadenopathy Skeletal dysplasia Arthritis Neoplasm Short thumb Abnormal facial shape Splenomegaly Short stature Urticaria Hepatomegaly Scoliosis Myelodysplasia Leukocytosis Immunodeficiency Recurrent infections Macrocephaly Thrombocytopenia Squamous cell carcinoma

Rare Symptoms - Less than 30% cases


Arthralgia Microcephaly Ataxia Micrognathia Visual impairment High palate Cleft palate Constipation Vomiting Blindness Hypoplasia of the ulna Patent ductus arteriosus Respiratory distress Bruising susceptibility Absent thumb Reduced bone mineral density Absent radius Horseshoe kidney Abnormal vertebral morphology Eosinophilia Pancytopenia Lymphoma Vertigo Atrial septal defect Facial asymmetry Abnormal cardiac septum morphology Postnatal growth retardation Partial duplication of thumb phalanx Proptosis Abnormal heart morphology Abnormality of cardiovascular system morphology Headache Renal insufficiency Myalgia Hearing impairment Triphalangeal thumb Recurrent respiratory infections Recurrent pneumonia Palmoplantar keratoderma Recurrent otitis media Osteosarcoma Respiratory tract infection Mandibular prognathia Cutaneous photosensitivity Migraine Gastrointestinal hemorrhage Nausea and vomiting Midface retrusion Uveitis Hypoplasia of the radius Short nose Erythema Purpura Vasculitis Concave nasal ridge Poikiloderma Conjunctivitis Otitis media Amyloidosis Nail dystrophy Osteopenia Nausea Leukemia Elevated erythrocyte sedimentation rate Polydactyly Ventricular septal defect Umbilical hernia Edema Hypogonadism Prominent forehead Abnormality of the dentition Papule Pruritus Deeply set eye Recurrent sinopulmonary infections Craniosynostosis Increased IgE level Coarse facial features Colitis Osteoporosis Joint hypermobility Bronchitis Wide nose Sinusitis Recurrent sinusitis Recurrent skin infections Atopic dermatitis Recurrent bacterial infections Hemivertebrae Skin ulcer Inflammatory abnormality of the skin Recurrent fractures Thick lower lip vermilion Recurrent bronchitis Chronic mucocutaneous candidiasis Chronic otitis media Hemihypertrophy Verrucae Prominent nose Recurrent aphthous stomatitis Subcapsular cataract Cervical lymphadenopathy Brachydactyly Posterior subcapsular cataract Sensorineural hearing impairment Pharyngitis Acrocyanosis Large forehead Serositis Optic neuritis Premature birth Neutrophilia Erysipelas Peritonitis Porokeratosis Neuritis Increased IgA level Chills EEG abnormality Poor coordination Dysphagia Delayed closure of the anterior fontanelle Wide nasal bridge Abnormal granulocyte morphology Retrobulbar optic neuritis Pseudopapilledema Abnormality of neutrophils Inflammatory abnormality of the eye Elevated C-reactive protein level Abnormal thrombocyte morphology Overgrowth Juvenile rheumatoid arthritis Arthropathy Abnormal joint morphology Progressive sensorineural hearing impairment Increased intracranial pressure Peripheral visual field loss Joint dislocation Meningitis Episodic fever Menorrhagia Red hair Lactose intolerance Decreased antibody level in blood Broad forehead Attention deficit hyperactivity disorder Autistic behavior Autism Obesity Long philtrum Quadricuspid aortic valve Patellar subluxation Tibial torsion Combined immunodeficiency Aplasia of the pectoralis major muscle Mesoaxial polydactyly Short digit Aplasia of the ulna Abnormality of the carpal bones Small thenar eminence Hematemesis Total anomalous pulmonary venous return Phocomelia Lymphopenia Biparietal narrowing Complete atrioventricular canal defect Hypohidrosis Aplasia of the sweat glands Periorbital wrinkles Recurrent infection of the gastrointestinal tract Anhidrotic ectodermal dysplasia Lymphocytosis Conical tooth Heat intolerance Agammaglobulinemia Anhidrosis Bronchiectasis Severe combined immunodeficiency Chronic diarrhea Sparse scalp hair Fine hair Ectodermal dysplasia Hypodontia Dry skin Sparse hair Delayed speech and language development Postnatal macrocephaly Increased head circumference Anomalous pulmonary venous return Ecchymosis Decrease in T cell count Recurrent candida infections Clinodactyly Pectus excavatum Syndactyly Hypertension Impaired neutrophil chemotaxis Squamous cell carcinoma of the vulva Anal canal squamous carcinoma Lung abscess Opportunistic infection Recurrent Staphylococcus aureus infections Mitral valve prolapse Severe viral infections Onychomycosis Recurrent bacterial skin infections Eczematoid dermatitis T-cell lymphoma Recurrent fungal infections Fractures of the long bones B lymphocytopenia Persistence of primary teeth Abnormality of the cardiovascular system Coarctation of aorta Allergy Limited elbow extension Secundum atrial septal defect Down-sloping shoulders Truncus arteriosus Heart block Short clavicles Thoracic scoliosis Oligodactyly Short humerus Atrioventricular canal defect Petechiae Epistaxis Hypoplastic left heart Right bundle branch block Bundle branch block Bowing of the legs Atrioventricular block Aortic regurgitation Finger clinodactyly Aortic valve stenosis Bradycardia Atrial fibrillation Hypermelanotic macule Chromosomal breakage induced by crosslinking agents Intestinal obstruction Hypothyroidism Abnormality of the liver Irritability Abnormality of the kidney Abnormality of the eye Hypertrophic cardiomyopathy Carcinoma Pes planus Weight loss Finger syndactyly Diabetes mellitus Upslanted palpebral fissure Severe short stature Clinodactyly of the 5th finger Hypospadias Microphthalmia Congestive heart failure Hydrocephalus Small for gestational age Hip dislocation Intrauterine growth retardation Oligohydramnios Insulin resistance Cafe-au-lait spot Telangiectasia Recurrent urinary tract infections Aganglionic megacolon Abnormality of the genital system Choanal atresia Short palpebral fissure Sloping forehead Dolichocephaly Tetralogy of Fallot Renal agenesis Hypopigmentation of the skin Abnormality of skin pigmentation Astigmatism Anal atresia Abnormality of the foot Toe syndactyly Ventriculomegaly Hyperreflexia Hypergonadotropic hypogonadism Alopecia Subungual hyperkeratosis Blepharitis Wheezing Atrophic scars Increased antibody level in blood Carious teeth Hyperkeratosis Respiratory failure Malar flattening Pes cavus Hypoplasia of teeth Absent eyelashes Prematurely aged appearance Basal cell carcinoma Absent eyebrow Brittle hair Microdontia Hypotrichosis Kyphosis Generalized tonic-clonic seizures Epicanthus Lower limb hypertonia Ptosis Cryptorchidism Nystagmus Short 3rd metacarpal Hyposegmentation of neutrophil nuclei Folate deficiency Median cleft palate Giant platelets Ectopic calcification Gingival overgrowth Short 5th metacarpal Abnormality of chromosome segregation Short 4th metacarpal Upper limb undergrowth Acute lymphoblastic leukemia Lower limb hyperreflexia Mild short stature Foot dorsiflexor weakness Spina bifida Bone marrow hypocellularity Apathy Almond-shaped palpebral fissure Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Compensated hypothyroidism Abnormality of the preputium Absent testis Hypoplastic anemia Decreased fertility in males Clubbing of toes Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Pyridoxine-responsive sideroblastic anemia Seizures Duodenal stenosis Retinal dystrophy Long eyelashes Nephrotic syndrome Optic disc pallor Dehydration Aciduria Limitation of joint mobility Sepsis Abdominal distention Infertility Generalized hypotonia Nyctalopia Pallor Abdominal pain Hyperhidrosis Rod-cone dystrophy Depressivity Flexion contracture Pain Duplicated collecting system Primary hypothyroidism Type I diabetes mellitus Glucose intolerance Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Multiple cafe-au-lait spots Myeloid leukemia Hydroureter Ectopic kidney Tracheoesophageal fistula Hearing abnormality Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Hypopigmented skin patches Renal hypoplasia/aplasia Cranial nerve paralysis Azoospermia Leukopenia External ear malformation Chromosome breakage Abnormality of nervous system morphology Abnormality of femur morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Bicornuate uterus Abnormal eyelid morphology Abnormality of the thumb Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Defective production of NFKB1-dependent cytokines



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