Frontal bossing, and Triangular face

Diseases related with Frontal bossing and Triangular face

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

Top matches:

THREE M SYNDROME 2; 3M2 Is also known as 3m syndrome 2

Related symptoms:

  • Short stature
  • Frontal bossing
  • Anteverted nares
  • Short neck
  • Long philtrum


SOURCES: OMIM MESH MENDELIAN

More info about THREE M SYNDROME 2; 3M2

MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

The 3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels (summary by Hanson et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 (OMIM ).

THREE M SYNDROME 3; 3M3 Is also known as 3m syndrome 3

Related symptoms:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Abnormality of the skeletal system
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about THREE M SYNDROME 3; 3M3

Other less relevant matches:

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

Related symptoms:

  • Failure to thrive
  • Strabismus
  • Anemia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term).

OSTEOGENESIS IMPERFECTA TYPE 3 Is also known as severe osteogenesis imperfecta|osteogenesis imperfecta, progressively deforming, with normal sclerae|progressive deforming osteogenesis imperfecta|oi type 3|oi, type iii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Macrocephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 3

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Related symptoms:

  • Short stature
  • Depressed nasal bridge
  • Intrauterine growth retardation
  • Frontal bossing
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about DWARFISM WITH TALL VERTEBRAE

Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME

Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

Top 5 symptoms//phenotypes associated to Frontal bossing and Triangular face

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Prominent forehead Uncommon - Between 30% and 50% cases
Pectus excavatum Uncommon - Between 30% and 50% cases
Kyphosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Protruding ear Pointed chin Slender long bone Delayed skeletal maturation Growth delay Pes planus Wormian bones Generalized hypotonia Feeding difficulties Long philtrum Anteverted nares Dolichocephaly Hyperlordosis Midface retrusion Malar flattening Short neck

Rare Symptoms - Less than 30% cases

Hydrocephalus Motor delay Hypospadias Retrognathia Decreased body weight Strabismus Hip dislocation Cataract Scoliosis Intrauterine growth retardation Micrognathia Kyphoscoliosis Recurrent fractures Flexion contracture Postnatal growth retardation Osteopenia Blue sclerae Oligohydramnios Low-set ears Muscular hypotonia Increased vertebral height Short thorax Global developmental delay Small for gestational age Scapular winging Abnormality of the skeletal system Clinodactyly Intellectual disability Cryptorchidism Short ribs Coxa vara Spina bifida occulta Spinal canal stenosis Short 5th finger Hypoplastic pelvis Thick eyebrow Neoplasm Reduced subcutaneous adipose tissue Pain Decreased testicular size Severe short stature Joint hypermobility Premature skin wrinkling Mandibular prognathia Brisk reflexes Clinodactyly of the 5th finger Calcaneovalgus deformity Depressed nasal bridge Fractures of the long bones Narrow iliac wings Lambdoidal craniosynostosis Decreased skull ossification Coronal craniosynostosis Dermal translucency Turricephaly Thin ribs Delayed cranial suture closure Deeply set eye Unilateral renal agenesis Thoracic kyphoscoliosis Aortic regurgitation Cutis laxa Spontaneous abortion Thin skin Congenital cataract Corneal opacity Broad forehead Autistic behavior Autism Inguinal hernia High pitched voice Talipes equinovarus Microcephaly Fulminant hepatic failure Down-sloping shoulders Skeletal muscle atrophy Thoracic kyphosis Adducted thumb Posterior subcapsular cataract Hepatocellular carcinoma Subcapsular cataract Premature graying of hair Lipodystrophy Elbow flexion contracture Single transverse palmar crease Bulbous nose Hepatic failure Prominent nasal bridge Carcinoma Abdominal pain Hernia Increased susceptibility to fractures Reduced bone mineral density Relative macrocephaly Hepatosplenomegaly Thrombocytopenia Splenomegaly Vomiting Hypoplasia of the corpus callosum Gait disturbance Optic atrophy Hepatomegaly Anemia Failure to thrive Penoscrotal hypospadias Unilateral cryptorchidism Melanocytic nevus Pterygium Finger clinodactyly Irritability Ambiguous genitalia Small hand Feeding difficulties in infancy Patent ductus arteriosus Hip dysplasia Cupped ear Tall stature Long face Macrotia Intellectual disability, mild Delayed speech and language development Prominent calcaneus Prominent nasal tip Thick vermilion border Facial palsy Brain atrophy Microretrognathia Biconcave vertebral bodies Platyspondyly Craniosynostosis Proptosis Ventriculomegaly Downslanted palpebral fissures High palate Hypertelorism Severe generalized osteoporosis Bowing of limbs due to multiple fractures Decreased calvarial ossification Basilar impression Protrusio acetabuli Multiple prenatal fractures Neonatal short-limb short stature Platybasia Short chin Dentinogenesis imperfecta Tibial bowing Abnormality of the thorax Wide anterior fontanel Pulmonary arterial hypertension Abnormality of the nervous system Abnormality of the dentition Hearing impairment Increased density of long bones Uncontrolled eye movements Increased head circumference Osteopetrosis Short femoral neck Leukopenia Small foramen magnum


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