Frontal bossing, and Osteosarcoma

Diseases related with Frontal bossing and Osteosarcoma

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

Top matches:

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

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

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Other less relevant matches:

Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.

AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA Is also known as axial smd|smd, axial

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA

The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1

Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.

TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3 Is also known as sugio-kajii syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Poikiloderma Short thumb Micrognathia High palate Downslanted palpebral fissures Short nose Skin rash Cutaneous photosensitivity Anemia Skeletal dysplasia Nail dystrophy Cleft palate Anal atresia Increased number of teeth Prominent forehead Pectus carinatum Sparse hair Hyperkeratosis Scoliosis Pneumonia Neoplasm Depressed nasal bridge Alopecia Anteverted nares Epicanthus Cryptorchidism Squamous cell carcinoma Basal cell carcinoma Delayed skeletal maturation Diarrhea Osteopenia Hypogonadism Concave nasal ridge

Rare Symptoms - Less than 30% cases

Wide nasal bridge Thin upper lip vermilion Muscular hypotonia Sensorineural hearing impairment Respiratory distress Strabismus Hearing impairment Flat forehead Smooth philtrum Flexion contracture Hypospadias Talipes equinovarus Broad forehead Long philtrum Hernia Low-set, posteriorly rotated ears Patent ductus arteriosus Abnormality of the kidney Absent thumb Abnormality of the skeletal system Optic atrophy Underdeveloped nasal alae Mild short stature Exostoses Proptosis Agenesis of corpus callosum Abnormal heart morphology Hyperlordosis Large fontanelles Abnormality of cardiovascular system morphology Brachydactyly Ventricular septal defect Nystagmus Short palm Bilateral radial aplasia Aplasia/Hypoplasia of the patella Telecanthus Global developmental delay Rectovaginal fistula Absent radius Proportionate short stature Aplasia/Hypoplasia of the thumb Anteriorly placed anus Bowing of the long bones Hypodontia Short foot Microcephaly Dental crowding Seizures Pain Postnatal growth retardation Malar flattening Osteoporosis Neutropenia Palmoplantar keratoderma Microdontia Abnormality of the dentition Erythema Hypoplasia of the radius Feeding difficulties Vomiting Visual impairment Abnormal facial shape Recurrent pneumonia Midface retrusion Myelodysplasia Eczema Hypopigmentation of the skin Telangiectasia Mandibular prognathia Acantholysis Short finger Sparse and thin eyebrow Short phalanx of finger Convex nasal ridge Avascular necrosis of the capital femoral epiphysis Short metatarsal Osteochondritis Dissecans Leukonychia Long upper lip Low back pain Abnormality of the knee Sparse eyelashes Decreased hip abduction Nyctalopia Kyphosis Cone-shaped epiphysis Photophobia Sparse lateral eyebrow Reduced visual acuity Limited elbow flexion Rod-cone dystrophy Pear-shaped nose Abnormality of skeletal physiology Visual loss Fragile nails Blindness Quadriceps muscle atrophy Back pain Abnormality of tibia morphology Aplasia of metacarpal bones Midface capillary hemangioma Carpal bone aplasia Persistent cloaca Limited shoulder movement Perineal fistula Bicoronal synostosis Urogenital fistula Aphalangy of the hands Abnormality of the carpal bones Metopic synostosis Brachyturricephaly Ulnar bowing Lambdoidal craniosynostosis Limited elbow movement Anomalous splenoportal venous system Unilateral radial aplasia Joint swelling Osteoarthritis Disproportionate short stature Limited elbow extension Broad hallux Coxa magna Growth abnormality Accelerated skeletal maturation Lumbar hyperlordosis Cone-shaped epiphyses of the middle phalanges of the hand Waddling gait Joint stiffness Arthritis Arthralgia Severe short stature Accelerated bone age after puberty Gait disturbance Platyspondyly Pigmentary retinopathy Delayed puberty Intestinal malrotation Aspiration Clinodactyly of the 5th finger Macrotia Recurrent urinary tract infections Congenital diaphragmatic hernia Ambiguous genitalia Oral cleft Prominent metopic ridge Cleft upper lip Cleft lip Patellar hypoplasia Gastroesophageal reflux Posteriorly rotated ears Pectus excavatum Syndactyly Abnormality of the voice Double outlet right ventricle Dysphagia Abnormality of the nasopharynx Widow's peak Volvulus Abnormality of the pharynx Hydrocele testis Chylothorax Right aortic arch Intestinal lymphangiectasia Posterior pharyngeal cleft Bilateral cleft lip and palate Bladder exstrophy Recurrent aspiration pneumonia Aspiration pneumonia Exstrophy Osteoma Bilateral cleft lip Respiratory insufficiency Low-set ears Astigmatism Short ribs Bulbous nose Neonatal respiratory distress Short distal phalanx of finger Epiphyseal dysplasia Triangular face Coxa vara Short metacarpal Short femoral neck Rhizomelia Abnormality of the metaphysis Limb undergrowth Pulmonary artery atresia Progressive visual loss Retinal dystrophy Retinal degeneration Metaphyseal irregularity Thoracic hypoplasia Irregular iliac crest Anterior rib cupping Enchondroma Proximal femoral metaphyseal irregularity Cupped ribs Aplasia/hypoplasia of the extremities Narrow greater sacrosciatic notches Prominent sternum Abnormality of the nervous system Spondylometaphyseal dysplasia Metaphyseal dysplasia Thoracic dysplasia Ovoid vertebral bodies Protruding ear Thoracic kyphosis Camptodactyly of finger Bell-shaped thorax Bronchitis Hand oligodactyly Behavioral abnormality Anterior plagiocephaly Microtia Webbed neck Macroglossia Bruising susceptibility Talipes Congenital cataract Neurological speech impairment Intellectual disability, moderate Short toe Retrognathia High forehead Micropenis Obesity Short neck Fatigue Ptosis Abnormality of the genital system Spina bifida Acrokeratosis Aplasia/Hypoplasia of the earlobes Triangular nasal tip Hemoglobin H Reduced alpha/beta synthesis ratio Hypochromic anemia Asymmetry of the thorax Hypochromic microcytic anemia Brain neoplasm Polycystic kidney dysplasia Myelomeningocele Protruding tongue Underdeveloped supraorbital ridges Microcytic anemia Aplasia/Hypoplasia of the eyebrow Supernumerary nipple Radial deviation of finger Failure to thrive Lamellar cataract Hypertension Recurrent respiratory infections Otitis media Asthma Carious teeth Cough Respiratory tract infection Respiratory failure Splenomegaly Conjunctivitis Hypoplasia of teeth Absent eyelashes Prematurely aged appearance Absent eyebrow Brittle hair Nausea and vomiting Hypotrichosis Recurrent otitis media Increased antibody level in blood Alopecia of scalp Abnormal blistering of the skin Severe vision loss Striae distensae Erythroderma Melanoma Sparse scalp hair Overgrowth Abnormality of skin pigmentation Atrophic scars Leukemia Carcinoma Hyperhidrosis Edema Subungual hyperkeratosis Blepharitis Wheezing Neurocytoma Microphthalmia Oxycephaly Pancytopenia Failure to thrive in infancy Abnormality of the metacarpal bones Spina bifida occulta Narrow face Abnormal vertebral morphology Renal dysplasia Hypotelorism Tracheoesophageal fistula Prominent nose Lymphoma Vesicoureteral reflux Bifid uvula Polymicrogyria Facial asymmetry Malabsorption Trigonocephaly Hypoplasia of the ulna Abnormal cardiac septum morphology Coronal craniosynostosis Abnormal localization of kidney Sagittal craniosynostosis Bilateral conductive hearing impairment Rib fusion Choanal stenosis Chromosome breakage Shallow orbits Hallux valgus Carpal synostosis Abnormality of the ureter Aplasia/Hypoplasia of the radius Fibular hypoplasia Oligodactyly Short humerus Narrow nasal bridge Prominent nasal bridge Craniosynostosis Glaucoma Growth hormone deficiency Pyloric stenosis Sarcoma Dermal atrophy Neoplasm of the skin Congenital hip dislocation Short palpebral fissure Microcornea Agenesis of permanent teeth Delayed eruption of teeth Small hand Flat face Hip dislocation Corneal opacity Small for gestational age Kyphoscoliosis Premature graying of hair Skin vesicle Hydronephrosis Myopia Conductive hearing impairment Narrow mouth Brachycephaly Thrombocytopenia Hydrocephalus Intrauterine growth retardation Motor delay Patellar aplasia Forearm reduction defects Zonular cataract Juvenile cataract Annular pancreas Duodenal stenosis Iris atrophy Skin erosion Shortening of all phalanges of fingers


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