Frontal bossing, and Proptosis

Diseases related with Frontal bossing and Proptosis

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

Top matches:

Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.

JACKSON-WEISS SYNDROME Is also known as craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome|jws

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Ptosis
  • Frontal bossing
  • Midface retrusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACKSON-WEISS SYNDROME

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

Other less relevant matches:

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD

Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia (see this term) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait.

CHILDHOOD-ONSET HYPOPHOSPHATASIA Is also known as childhood-onset phosphoethanolaminuria|childhood-onset rathburn disease

Related symptoms:

  • Seizures
  • Short stature
  • Pain
  • Motor delay
  • Frontal bossing


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CHILDHOOD-ONSET HYPOPHOSPHATASIA

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: ORPHANET MENDELIAN

More info about ANTLEY-BIXLER SYNDROME

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Flexion contracture
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about MEESTER-LOEYS SYNDROME; MRLS

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

Symptoms // Phenotype % cases
Macrocephaly Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Posteriorly rotated ears Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Turricephaly Ventriculomegaly Generalized hypotonia Global developmental delay Midface retrusion Craniosynostosis

Rare Symptoms - Less than 30% cases

Osteopenia Brachydactyly Cleft palate Recurrent fractures Platyspondyly Talipes Narrow chest Femoral bowing Seizures Underdeveloped supraorbital ridges Telecanthus Camptodactyly Relative macrocephaly Dolichocephaly Sensorineural hearing impairment Micrognathia Anteverted nares Short stature Strabismus Diarrhea Hepatomegaly Hypothyroidism Low-set ears Splenomegaly Diabetes mellitus Clinodactyly Autoimmunity Malabsorption Respiratory failure Sparse and thin eyebrow Failure to thrive Severe short stature Elevated urine pyrophosphate Phosphoethanolaminuria Microcephaly Growth delay Anemia Depressed nasal bridge Talipes equinovarus Recurrent infections High forehead Anisopoikilocytosis Sparse hair Small for gestational age Short distal phalanx of finger Hypopigmentation of the skin Hepatitis Hypopigmented skin patches Profound global developmental delay Spotty hypopigmentation Asthma Short nose Abnormal lung morphology Mitral regurgitation Malar flattening Dilatation Skeletal dysplasia Pes planus Hip dislocation Joint hypermobility Bifid uvula Hypertrichosis Gingival overgrowth Elbow ankylosis Joint dislocation Aortic regurgitation Aortic aneurysm Abnormality of the sternum Striae distensae Dilatation of the cerebral artery Aortic dissection Pulmonary artery aneurysm Flexion contracture Narrow pelvis bone Chronic diarrhea Abnormality of cardiovascular system morphology Type I diabetes mellitus Short chin Abnormal intestine morphology Prominent occiput Chronic lung disease Interstitial pneumonitis Skin dimple over apex of long bone angulation Long philtrum Brachycephaly Abnormal renal morphology Narrow mouth Low-set, posteriorly rotated ears Joint stiffness Camptodactyly of finger Arachnodactyly Abnormality of the ribs Choanal atresia Delayed cranial suture closure Hypoplasia of the zygomatic bone Elevated plasma pyrophosphate Narrow iliac wings Low alkaline phosphatase Premature birth Autistic behavior Microtia Abnormality of the foot Facial asymmetry Febrile seizures Tall stature Micromelia High myopia Absent speech Rhizomelia Metaphyseal widening Glossoptosis Hypoplastic scapulae Short femur Upper airway obstruction Dumbbell-shaped long bone Autism Immunodeficiency Cataract 2-3 toe syndactyly Ptosis Mandibular prognathia Toe syndactyly Hypoplasia of the maxilla Convex nasal ridge Abnormal palate morphology Short metatarsal Split foot Epicanthus Preaxial foot polydactyly Broad hallux phalanx Symphalangism affecting the phalanges of the hand Abnormality of fibula morphology Broad metatarsal Intellectual disability Cryptorchidism Delayed speech and language development Hearing impairment Microphthalmia Rachitic rosary Pain Reduced bone mineral density High pitched voice Thin ribs Coronal craniosynostosis Decreased skull ossification Lambdoidal craniosynostosis Fractures of the long bones Abnormality of the skeletal system Wormian bones Myopathy Osteoporosis Arthralgia Carious teeth Waddling gait Hypoplasia of dental enamel Bowing of the legs Premature loss of primary teeth Microretrognathia Blue sclerae Coloboma Osteopetrosis Congenital cataract Microcornea Congenital sensorineural hearing impairment Preauricular pit Albinism Premature graying of hair Shallow orbits Blue irides Oligohydramnios Generalized hypopigmentation High palate Hydrocephalus Kyphosis Pectus excavatum Retrognathia Postnatal growth retardation Triangular face Cervical spine instability


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