Frontal bossing, and Skeletal dysplasia

Diseases related with Frontal bossing and Skeletal dysplasia

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

Top matches:

Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.

TRICHO-DENTO-OSSEOUS SYNDROME Is also known as tdo syndrome

Related symptoms:

  • Macrocephaly
  • Frontal bossing
  • Skeletal dysplasia
  • Dolichocephaly
  • Carious teeth


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TRICHO-DENTO-OSSEOUS SYNDROME

Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Depressed nasal bridge
  • Wide nasal bridge
  • Optic atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIODIAPHYSEAL DYSPLASIA

Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1B Is also known as achondrogenesis, parenti-fraccaro type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Talipes equinovarus
  • Anteverted nares


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1B

Other less relevant matches:

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 2 Is also known as achondrogenesis, langer-saldino type

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 2

Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Depressed nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY

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

Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

ATELOSTEOGENESIS TYPE III Is also known as aoiii|ao3|atelosteogenesis type 3

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS TYPE III

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

The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. Classification of AchondrogenesisAchondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). Borochowitz et al. (1988) suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA (ACG1A ), corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB, corresponding to the case originally published by Fraccaro (1952). Analysis of the case reported by Parenti (1936) by Borochowitz et al. (1988) suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type (OMIM ). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. Superti-Furga (1996) suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder.

ACHONDROGENESIS, TYPE IB; ACG1B Is also known as achondrogenesis, fraccaro type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACHONDROGENESIS, TYPE IB; ACG1B

Top 5 symptoms//phenotypes associated to Frontal bossing and Skeletal dysplasia

Symptoms // Phenotype % cases
Macrocephaly Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Severe short stature Uncommon - Between 30% and 50% cases
Polyhydramnios Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Micromelia Short nose Long philtrum Abnormality of cardiovascular system morphology Depressed nasal bridge Umbilical hernia Narrow chest Hydrops fetalis Flat face Cystic hygroma Thickened nuchal skin fold Aplasia/Hypoplasia of the lungs Abnormal enchondral ossification Anteverted nares Lethal skeletal dysplasia Femoral hernia Malar flattening Osteoarthritis Abdominal distention Short thorax Short stature

Rare Symptoms - Less than 30% cases

Osteochondritis Dissecans Genu valgum Abnormality of epiphysis morphology Abnormal facial shape Epiphyseal dysplasia Multiple epiphyseal dysplasia Disproportionate short stature Disproportionate short-limb short stature Short foot Pain Gait disturbance Inguinal hernia Arthralgia Abnormality of the ribs Mild short stature Talipes equinovarus Waddling gait Midface retrusion Short palm Hyperlordosis Growth abnormality Limited elbow extension Broad hallux Flattened epiphysis Back pain Breech presentation Arthritis Knee osteoarthritis Ankle pain Accelerated skeletal maturation Proportionate short stature Neonatal short-limb short stature Delayed skeletal maturation Short thumb Brachydactyly Abnormality of bone mineral density Lumbar hyperlordosis Joint stiffness Sandal gap Joint swelling Horizontal sacrum Hypoplasia of the maxilla Cleft palate Scoliosis Abnormality of skeletal physiology Quadriceps muscle atrophy Elbow dislocation Prominent occiput Tibial bowing Radial bowing Flat acetabular roof Knee dislocation Cervical kyphosis Hitchhiker thumb Cervical segmentation defect Exostoses Widened distal phalanges Hypoplasia of the capital femoral epiphysis Tombstone-shaped proximal phalanges Recurrent fractures Multiple rib fractures Respiratory insufficiency Edema Short ribs Limited elbow flexion Decreased hip abduction Low back pain Hypoplastic ilia Abnormality of the knee Rhizomelia Abnormality of tibia morphology Molar tooth sign on MRI Small epiphyses Dry hair Craniofacial hyperostosis Stenosis of the external auditory canal Flared metaphysis Hyperostosis Conductive hearing impairment Coarse facial features Optic atrophy Wide nasal bridge Intellectual disability Obliteration of the calvarial diploe Abnormality of the mastoid Fragile nails Diaphyseal sclerosis Taurodontia Amelogenesis imperfecta Curly hair Thickened calvaria Widely spaced teeth Increased bone mineral density Abnormality of the hair Hypoplasia of dental enamel Microdontia Carious teeth Dolichocephaly Diaphyseal thickening Diaphyseal dysplasia Irregular epiphyses Joint dislocation Abnormal joint morphology Genu varum Hip dysplasia Limitation of joint mobility Hypodontia Proximal muscle weakness Myopathy Muscle weakness Thoracic hypoplasia Postaxial hand polydactyly Enlarged joints Lymphedema Facial hyperostosis Brain atrophy Hip dislocation Finger syndactyly Pectus carinatum Agenesis of corpus callosum Clinodactyly Pectus excavatum Obesity Motor delay Low-set ears Hypertelorism Absent or minimally ossified vertebral bodies


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