Edema, and Frontal bossing

Diseases related with Edema and Frontal bossing

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

Top matches:

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

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

Other less relevant matches:

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

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

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

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

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, corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB (OMIM ), 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. Genetic Heterogeneity of AchondrogenesisAchondrogenesis type IB (ACG1B ) is caused by mutation in the DTDST gene (OMIM ), and achondrogenesis type II (ACG2 ) is caused by mutation in the COL2A1 gene (OMIM ).

ACHONDROGENESIS, TYPE IA; ACG1A Is also known as achondrogenesis, houston-harris type

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACHONDROGENESIS, TYPE IA; ACG1A

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

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

Symptoms // Phenotype % cases
Macrocephaly Common - Between 50% and 80% cases
Polyhydramnios Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
Hydrops fetalis Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Severe short stature

Uncommon Symptoms - Between 30% and 50% cases

Abnormal enchondral ossification Umbilical hernia Abnormality of cardiovascular system morphology Aplasia/Hypoplasia of the lungs Thickened nuchal skin fold Narrow chest Micromelia Cystic hygroma Anteverted nares Flat face Short nose Long philtrum Short thorax Lethal skeletal dysplasia Femoral hernia Inguinal hernia Skeletal dysplasia Abdominal distention Short stature Disproportionate short stature Short foot Abnormality of the ribs

Rare Symptoms - Less than 30% cases

Proptosis Midface retrusion Short ribs Depressed nasal bridge Pain Growth delay Epiphyseal dysplasia Recurrent fractures Malar flattening Low-set ears Brachydactyly Abnormal facial shape Hypertelorism Multiple epiphyseal dysplasia Growth abnormality Arthritis Hyperhidrosis Osteopenia Thoracic hypoplasia Talipes equinovarus Osteoarthritis Barrel-shaped chest Short chin Decreased skull ossification Hypoplastic scapulae Hypoplasia of the radius Thin ribs Protruding tongue Upper limb undergrowth Protuberant abdomen Short clavicles Limb undergrowth Alopecia of scalp Premature birth Hypoplastic ischia Sparse scalp hair Telangiectasia Melanoma Erythroderma Squamous cell carcinoma Basal cell carcinoma Striae distensae Severe vision loss Osteosarcoma Corneal opacity Poikiloderma Concave nasal ridge Acantholysis Lamellar cataract Acrokeratosis Cleft palate Abnormality of the skeletal system Hernia Respiratory failure Disproportionate short-trunk short stature Fever Broad clavicles Hyperthyroidism Abnormality of the metaphysis Bowing of the long bones Wormian bones Abnormality of dental enamel Increased susceptibility to fractures Abnormality of the voice High pitched voice Pathologic fracture Central hypotonia Blue sclerae Turricephaly Shallow orbits Coronal craniosynostosis Communicating hydrocephalus Vertebral compression fractures Severe hydrops fetalis Multiple suture craniosynostosis Crumpled long bones Abnormal form of the vertebral bodies Microdontia Beaded ribs Muscular hypotonia Unossified vertebral bodies Abnormal foot bone ossification Abnormal hand bone ossification Abnormality of the femoral metaphysis Global developmental delay Generalized hypotonia Scoliosis Failure to thrive High palate Delayed eruption of teeth Intrauterine growth retardation Downslanted palpebral fissures Hydrocephalus Kyphosis Eczema Craniosynostosis Joint hyperflexibility Bruising susceptibility Cutaneous photosensitivity Absent or minimally ossified vertebral bodies Overgrowth Arthralgia Joint dislocation Molar tooth sign on MRI Enlarged joints Postaxial hand polydactyly Disproportionate short-limb short stature Gait disturbance Delayed skeletal maturation Hyperlordosis Abnormality of epiphysis morphology Joint stiffness Waddling gait Lumbar hyperlordosis Short thumb Accelerated skeletal maturation Back pain Mild short stature Lymphedema Brain atrophy Limited elbow extension Recurrent streptococcus pneumoniae infections Dry skin Hypodontia Ectodermal dysplasia Osteomyelitis Cellulitis Periorbital edema Conical incisor Motor delay Genu valgum Obesity Pectus excavatum Clinodactyly Agenesis of corpus callosum Pectus carinatum Finger syndactyly Hip dislocation Broad hallux Proportionate short stature Abnormal blistering of the skin Hyperkeratosis Vomiting Diarrhea Abnormality of the dentition Alopecia Prominent forehead Osteoporosis Hypogonadism Carcinoma Feeding difficulties Postnatal growth retardation Erythema Sparse hair Skin rash Leukemia Abnormality of skin pigmentation Hypopigmentation of the skin Visual impairment Cataract Joint swelling Quadriceps muscle atrophy Exostoses Abnormality of tibia morphology Abnormality of the knee Low back pain Osteochondritis Dissecans Decreased hip abduction Limited elbow flexion Abnormality of skeletal physiology Neoplasm Short palm Multiple rib fractures Respiratory insufficiency Hypoplastic ilia Breech presentation Neonatal short-limb short stature Abnormality of bone mineral density Intellectual disability Orbital craniosynostosis


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