Frontal bossing, and Recurrent fractures

Diseases related with Frontal bossing and Recurrent fractures

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.

VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B Is also known as 25-hydroxyvitamin d3 deficiency, selective|pseudovitamin d3 deficiency rickets due to 25-hydroxylase deficiency|vitamin d-dependent rickets, type 1b

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B

Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1A Is also known as achondrogenesis, houston-harris type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Short neck


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1A

Other less relevant matches:

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

Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.

HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS Is also known as vdrr ii|vddr ii|vitamin d-dependent rickets type ii|hvdrr|hereditary vitamin d-resistant rickets|vitamin d-resistant rickets type ii

Related symptoms:

  • Short stature
  • Scoliosis
  • Gait disturbance
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS

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

Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. HHRH is distinct from other forms of hypophosphatemic rickets in that affected individuals present with hypercalciuria due to increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption (summary by Bergwitz et al., 2006).

HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH Is also known as hypercalciuric rickets

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

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

Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.

HYPOCALCEMIC VITAMIN D-DEPENDENT RICKETS Is also known as vddi|vitamin d-dependency type i|vddr-i|vitamin d-dependent rickets, type 1a|vitamin d dependency, type 1|pddr1a|1-alpha, 25-hydroxyvitamin d3 deficiency, selective|25-hydroxycholecalciferol-1-hydroxylase deficiency|pddr ia|1-alpha-hydroxylase deficiency|

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOCALCEMIC VITAMIN D-DEPENDENT RICKETS

Top 5 symptoms//phenotypes associated to Frontal bossing and Recurrent fractures

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Femoral bowing Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Blue sclerae Macrocephaly Hypophosphatemia Hypertelorism Scoliosis Tibial bowing Muscular hypotonia Bone pain Micrognathia Generalized hypotonia Rickets Elevated alkaline phosphatase Flat occiput Bowing of the legs Difficulty walking Metaphyseal irregularity Delayed epiphyseal ossification Thin bony cortex Widely patent fontanelles and sutures Enlargement of the wrists Enlargement of the costochondral junction Enlargement of the ankles Sparse bone trabeculae Bulging epiphyses Bulging of the costochondral junction Deformed rib cage Osteomalacia Fibular bowing Difficulty standing Triangular face Hydrocephalus Kyphosis Midface retrusion Turricephaly Proptosis Osteopenia Wormian bones Craniosynostosis

Rare Symptoms - Less than 30% cases

Delayed eruption of teeth Narrow chest Hydrops fetalis Ventriculomegaly Hyperparathyroidism Muscle weakness Motor delay Abnormality of cardiovascular system morphology Abnormality of the dentition Hypocalcemia Nephrolithiasis Abnormal form of the vertebral bodies Abnormality of the metaphysis Increased susceptibility to fractures Abnormality of the thorax High palate Bowing of the long bones Severe short stature Brachycephaly Long philtrum Coronal craniosynostosis Short nose Postnatal growth retardation Hypophosphatemic rickets High pitched voice Abnormality of the ribs Global developmental delay Intrauterine growth retardation Anteverted nares Microcephaly Joint hypermobility Congenital hip dislocation Bulbous nose Hypoplasia of the maxilla Hypotelorism Abnormal facial shape Intellectual disability Increased serum 1,25-dihydroxyvitamin D3 Calcium nephrolithiasis Renal phosphate wasting Hip dislocation Broad forehead Protruding ear Joint laxity Deeply set eye Gastroesophageal reflux Renal tubular dysfunction Mandibular prognathia Osteoporosis Prominent forehead Agenesis of corpus callosum Malar flattening Epicanthus Abnormality of the skeletal system Large fontanelles Multiple suture craniosynostosis Cutis laxa Inability to walk Severe hydrops fetalis Hypercalciuria Crumpled long bones Orbital craniosynostosis Seizures Irritability Malabsorption Hypoplasia of dental enamel Communicating hydrocephalus Aminoaciduria Protuberant abdomen Elevated circulating parathyroid hormone level Generalized aminoaciduria Hypocalcemic seizures Abdominal wall muscle weakness Secondary hyperparathyroidism Vertebral compression fractures Shallow orbits Growth abnormality Brachydactyly Redundant skin Premature skin wrinkling Prominent superficial veins Colpocephaly Narrow nasal ridge Abnormal glycosylation Low-set ears Edema Central hypotonia Skeletal dysplasia Joint hyperflexibility Bruising susceptibility Microdontia Abnormality of dental enamel Abnormality of the voice Pathologic fracture Hyperthyroidism Abnormality of abdomen morphology Genu valgum Pain Abnormal enchondral ossification Short thorax Cystic hygroma Thickened nuchal skin fold Aplasia/Hypoplasia of the lungs Lethal skeletal dysplasia Femoral hernia Multiple rib fractures Short foot Hearing impairment Kyphoscoliosis Abnormality of the nervous system Pulmonary arterial hypertension Wide anterior fontanel Slender long bone Abdominal distention Short palm Platybasia Thin ribs Pectus excavatum Retrognathia Platyspondyly Oligohydramnios Microretrognathia Reduced bone mineral density Decreased skull ossification Flat face Lambdoidal craniosynostosis Narrow iliac wings Fractures of the long bones Short neck Polyhydramnios Umbilical hernia Micromelia Dentinogenesis imperfecta Biconcave vertebral bodies Elbow ankylosis Talipes Strabismus Cleft palate Narrow mouth Low-set, posteriorly rotated ears Joint stiffness Camptodactyly of finger Arachnodactyly Abnormal bone structure Choanal atresia Delayed cranial suture closure Underdeveloped supraorbital ridges Hypoplasia of the zygomatic bone Abnormal renal morphology Narrow pelvis bone Abnormal adipose tissue morphology Rough bone trabeculation Neonatal short-limb short stature Gait disturbance Multiple prenatal fractures Protrusio acetabuli Basilar impression Decreased calvarial ossification Bowing of limbs due to multiple fractures Severe generalized osteoporosis Alopecia Premature loss of primary teeth Dolichocephaly Abnormality of the skin Joint dislocation Osteolysis Genu varum Abnormality of the hip bone Bone cyst Subperiosteal bone resorption


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