Frontal bossing, and Abnormal bleeding

Diseases related with Frontal bossing and Abnormal bleeding

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


Top matches:

Low match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2


The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Low match COLE-CARPENTER SYNDROME


Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

Low 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

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Other less relevant matches:

Low match 1P31P32 MICRODELETION SYNDROME


1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

Low match WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Low match BANNAYAN-RILEY-RUVALCABA SYNDROME


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Low match JOUBERT SYNDROME WITH HEPATIC DEFECT


Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

Low match ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16


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

Low match LOEYS-DIETZ SYNDROME 1; LDS1


The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). NomenclatureIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) (MacCarrick et al., 2014). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below). Genetic Heterogeneity of Loeys-Dietz SyndromeLDS1 is caused by mutation in the TGFBR1 gene. LDS2 (OMIM ) is caused by mutation in the TGFBR2 gene (OMIM ). LDS3 (OMIM ), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene (OMIM ). LDS4 (OMIM ) is caused by mutation in the TGFB2 gene (OMIM ). LDS5 (OMIM ) is caused by mutation in the TGFB3 gene (OMIM ). ReviewsMacCarrick et al. (2014) provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.

LOEYS-DIETZ SYNDROME 1; LDS1 Is also known as aat5|aortic aneurysm, familial thoracic 5|loeys-dietz aortic aneurysm syndrome|furlong syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 1; LDS1

Low 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

Top 5 symptoms//phenotypes associated to Frontal bossing and Abnormal bleeding

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly Micrognathia Muscular hypotonia Seizures Bruising susceptibility Scoliosis Hydrocephalus Failure to thrive Hernia Anteverted nares Short stature Growth delay Generalized hypotonia Low-set ears Polydactyly Proptosis Skeletal dysplasia Dilatation Joint dislocation Fatigue Patent ductus arteriosus Hypertension Abnormality of the skeletal system Broad forehead Craniosynostosis Anemia Inguinal hernia Blue sclerae Long philtrum Ptosis Abnormal facial shape Camptodactyly Mitral valve prolapse Talipes equinovarus

Rare Symptoms - Less than 30% cases


Pectus excavatum Respiratory distress Hearing impairment Retrognathia Hypospadias Sensorineural hearing impairment Malar flattening Gait disturbance Visual impairment Depressed nasal bridge Splenomegaly Aplasia/Hypoplasia of the eyebrow Heart block Purpura Cryptorchidism Neoplasm Hepatosplenomegaly Hepatomegaly Midface retrusion Mitral regurgitation Dental crowding Cognitive impairment Sparse eyebrow Hyperreflexia Cleft palate Atrial septal defect Clinodactyly Narrow nose Micropenis Asthma Cutis marmorata High forehead Aplasia/Hypoplasia of the corpus callosum Myopathy Finger clinodactyly Prominent nasal bridge Thin vermilion border Facial asymmetry Muscle weakness Agenesis of corpus callosum Short nose Pectus carinatum Intellectual disability, moderate Motor delay Overgrowth Multiple suture craniosynostosis Aortic aneurysm Delayed gross motor development Arachnodactyly Talipes Abnormality of the kidney Protruding ear Brachydactyly Edema Myalgia Narrow mouth Joint hyperflexibility Gastrointestinal hemorrhage Postaxial hand polydactyly Arthralgia Diarrhea Dolichocephaly Neurological speech impairment Molar tooth sign on MRI Abnormality of neuronal migration Protruding tongue Underdeveloped supraorbital ridges Microcytic anemia Supernumerary nipple Aplasia/Hypoplasia of the cerebellum Cirrhosis Chorioretinal coloboma Radial deviation of finger Polycystic kidney dysplasia Spina bifida Short toe Abnormality of the genital system Apnea Webbed neck Myelomeningocele Osteosarcoma Congenital cataract Asymmetry of the thorax Hemoglobin H Wide mouth Reduced alpha/beta synthesis ratio Abnormality of the liver Coloboma Flat forehead Hypochromic anemia Hypochromic microcytic anemia Abnormality of the eye Abnormality of eye movement Aplasia/Hypoplasia of the earlobes Oral cleft Stage 5 chronic kidney disease Long face Brain neoplasm Feeding difficulties in infancy Macroglossia Abnormality of abdomen morphology Optic nerve coloboma Aplasia/Hypoplasia of the cerebellar vermis Cerebellar vermis hypoplasia Cataract Microcephaly Intrahepatic biliary atresia Hepatic fibrosis Chronic hepatic failure Multiple small medullary renal cysts Cholestasis Apraxia Abnormal pattern of respiration Congenital hepatic fibrosis Encephalocele Abnormality of the hypothalamus-pituitary axis Cholestatic liver disease Esophageal varix Neoplasm of the liver Flexion contracture Epicanthus Iris coloboma Oculomotor apraxia Retinal dystrophy Microtia Portal hypertension Nephropathy Low-set, posteriorly rotated ears Nephronophthisis Chronic kidney disease Highly arched eyebrow Wide nasal bridge Renal cyst Round face Abnormality of the nervous system Intestinal malrotation Obesity Multicystic kidney dysplasia Biparietal narrowing Short neck Occipital encephalocele Dilatation of the cerebral artery Triangular nasal tip Atrioventricular block Absent thumb Limited elbow extension Petechiae Hypoplastic left heart Right bundle branch block Bundle branch block Menorrhagia Hypoplasia of the ulna Bowing of the legs Triphalangeal thumb Hypoplasia of the radius Short humerus Eosinophilia Aortic regurgitation Horseshoe kidney Aortic valve stenosis Bradycardia Abnormal vertebral morphology Short thumb Atrial fibrillation Epistaxis Coarctation of aorta Atrioventricular canal defect Oligodactyly Nausea Hematemesis Patellar subluxation Lactose intolerance Tibial torsion Aplasia of the pectoralis major muscle Mesoaxial polydactyly Short digit Aplasia of the ulna Partial duplication of thumb phalanx Abnormality of the carpal bones Small thenar eminence Total anomalous pulmonary venous return Absent radius Phocomelia Anomalous pulmonary venous return Complete atrioventricular canal defect Ecchymosis Allergy Secundum atrial septal defect Down-sloping shoulders Truncus arteriosus Short clavicles Thoracic scoliosis Abnormality of the cardiovascular system Abnormal cardiac septum morphology Neurocytoma Microretrognathia Rhinitis Aortic root aneurysm Abnormality of the sternum Atrophic scars Disproportionate tall stature Hallux valgus Myopathic facies Ectopia lentis Arnold-Chiari malformation Bicuspid aortic valve Joint contracture of the hand Scaphocephaly Exotropia Osteoarthritis Eczema Bifid uvula Joint laxity Pes planus Kyphoscoliosis Posteriorly rotated ears Clinodactyly of the 5th finger Myopia Cerebellar hypoplasia Soft skin Abnormal heart morphology Cystic medial necrosis Thrombocytopenia Abnormality of cardiovascular system morphology Syndactyly Vomiting Ventricular septal defect Biconvex vertebral bodies Bicuspid pulmonary valve Generalized arterial tortuosity Descending thoracic aorta aneurysm Pulmonary artery aneurysm Ascending aortic dissection High anterior hairline Long thorax Dural ectasia Unilateral ptosis Arterial tortuosity Thoracic aortic aneurysm Ascending tubular aorta aneurysm Dermal translucency Long toe Sagittal craniosynostosis Spondylolisthesis Elevated hepatic transaminase Hypoglycemia Renal insufficiency Arthropathy Pseudopapilledema Abnormality of neutrophils Inflammatory abnormality of the eye Elevated C-reactive protein level Delayed closure of the anterior fontanelle Abnormal thrombocyte morphology Juvenile rheumatoid arthritis Uveitis Amyloidosis Abnormal joint morphology Abnormal granulocyte morphology Progressive sensorineural hearing impairment Elevated erythrocyte sedimentation rate Leukocytosis Urticaria Reduced bone mineral density Increased intracranial pressure Vasculitis Meningitis Premature birth Migraine Retrobulbar optic neuritis Ventriculomegaly Nausea and vomiting Urinary incontinence Syringomyelia Absent septum pellucidum Obsessive-compulsive behavior Overfolded helix Abnormality of the urinary system Short chin Renal hypoplasia Pigmentary retinopathy Hip dysplasia Vesicoureteral reflux Hypoplasia of the corpus callosum Polymicrogyria Attention deficit hyperactivity disorder Retinopathy Hydronephrosis Thin upper lip vermilion Jaundice Hyperactivity Upslanted palpebral fissure Prominent forehead Hypertonia Lymphadenopathy Papule Arachnoid cyst Fragile skin Microdontia Recurrent fractures Delayed eruption of teeth Osteopenia Severe short stature Kyphosis Intrauterine growth retardation Hypoplasia of the musculature Facial hypotonia Bilateral talipes equinovarus Abnormal form of the vertebral bodies Patent foramen ovale Hyperextensible skin Adducted thumb Generalized muscle weakness Joint hypermobility Scarring Telecanthus Brachycephaly Cerebral atrophy Pain Abnormality of the ribs Abnormality of the metaphysis Skin rash Coronal craniosynostosis Arthritis EEG abnormality Blindness Fever Orbital craniosynostosis Crumpled long bones Severe hydrops fetalis Vertebral compression fractures Communicating hydrocephalus Shallow orbits Bowing of the long bones Turricephaly Central hypotonia Hyperthyroidism Pathologic fracture High pitched voice Abnormality of the voice Increased susceptibility to fractures Abnormality of dental enamel Wormian bones Hydrops fetalis Arnold-Chiari type I malformation Broad face Intellectual disability, severe Lymphoma Multiple lipomas Intracranial hemorrhage Cachexia Narrow palate Lymphedema Telangiectasia Tall stature Subcutaneous nodule Broad thumb Nevus Hamartoma Wide nose Macrotia Delayed skeletal maturation Skeletal muscle atrophy Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Multiple cafe-au-lait spots Irregular hyperpigmentation Abnormal T-wave Subcutaneous hemorrhage Tremor Spasticity Strabismus Nystagmus Ataxia Neoplasm of the adrenal cortex Abnormal large intestine morphology Uterine neoplasm Abdominal wall muscle weakness Hamartomatous polyposis Hashimoto thyroiditis Neoplasm of the breast Visceral angiomatosis Intestinal polyposis Thyroid carcinoma Angina pectoris Abnormality of the optic nerve Arteriovenous malformation Meningioma Capillary hemangioma Lipoma Abnormal spermatogenesis Decreased serum estradiol Metopic synostosis Alopecia Abnormality of movement Delayed puberty Hypotrichosis Arthrogryposis multiplex congenita Sparse hair Mental deterioration Hypothyroidism Diabetes mellitus Hypogonadism Babinski sign Polyneuropathy Abnormality of metabolism/homeostasis Intellectual disability, mild Dystonia Dysarthria Peripheral neuropathy Delayed speech and language development Partial absence of the septum pellucidum Craniofacial asymmetry Intraventricular hemorrhage Ureterocele Sensory neuropathy Triangular face Decreased serum testosterone level Choreoathetosis Anodontia Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Flat occiput Premature ovarian insufficiency Hyperlipidemia Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Hallucinations Sparse scalp hair Prominent nose Primary amenorrhea Myocardial infarction Fine hair Psychosis Abnormality of extrapyramidal motor function Bilateral sensorineural hearing impairment Dehydration Amenorrhea Decreased testicular size Dental malocclusion Quadricuspid aortic valve



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