Edema, and Craniosynostosis

Diseases related with Edema and Craniosynostosis

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

Top matches:

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUSCHKE-OLLENDORFF SYNDROME

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

Other less relevant matches:

Omodysplasia-1 (OMOD1) is a rare autosomal recessive skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. Variable findings are cryptorchidism, hernias, congenital heart defects, and cognitive delay (Elcioglu et al., 2004; Albano et al., 2007). Genetic Heterogeneity of OmodysplasiaIn an autosomal dominant form of omodysplasia (OMOD2 ), abnormalities are limited to the upper limbs. The facial changes and typical growth defect of the distal humerus with complex deformity of the elbows appear to be similar in both entities (Baxova et al., 1994).

AUTOSOMAL RECESSIVE OMODYSPLASIA Is also known as omodysplasia, generalized form|micromelic dysplasia-dislocation of radius syndrome|omodysplasia, autosomal recessive|micromelic dysplasia, congenital, with dislocation of radius

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE OMODYSPLASIA

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

CRANIOSYNOSTOSIS 7; CRS7 Is also known as crs7, digenic|craniosynostosis 7, digenic

Related symptoms:

  • Delayed speech and language development
  • Craniosynostosis


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 7; CRS7

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 Is also known as majewski syndrome|short rib-polydactyly syndrome, type ii|srps2a|srps, type ii|polydactyly with neonatal chondrodystrophy, type ii|short rib-polydactyly syndrome, type iia

Related symptoms:

  • Short stature
  • Cleft palate
  • Delayed speech and language development
  • Motor delay
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6

The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 3; 3MC3 Is also known as malpuech facial clefting syndrome, formerly|facial clefting syndrome, gypsy type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3MC SYNDROME 3; 3MC3

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.

BRANCHIOSKELETOGENITAL SYNDROME Is also known as hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss|elsahy-waters syndrome|brachioskeletogenital syndrome|bsg syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRANCHIOSKELETOGENITAL SYNDROME

Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

Top 5 symptoms//phenotypes associated to Edema and Craniosynostosis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Skeletal dysplasia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Brachydactyly Intellectual disability Hydrops fetalis Abnormal heart morphology Epicanthus Short neck Ventricular septal defect Polydactyly Cleft palate Depressed nasal bridge Scoliosis Wide nasal bridge Mesomelia High palate Anteverted nares Hernia Frontal bossing Limb undergrowth Postaxial hand polydactyly Severe short stature Blepharophimosis Umbilical hernia Midface retrusion Micropenis Hepatic fibrosis Abnormality of the metaphysis Hearing impairment Strabismus Abnormality of the dentition Abnormality of the pinna Telecanthus Cryptorchidism

Rare Symptoms - Less than 30% cases

Cleft lip Malar flattening Micromelia Narrow forehead Preaxial polydactyly Posteriorly rotated ears Bifid scrotum Cleft upper lip Abnormality of cardiovascular system morphology Short nose Highly arched eyebrow Atrial septal defect High forehead Polyhydramnios Penoscrotal hypospadias Upslanted palpebral fissure Hepatomegaly Pulmonary hypoplasia Renal cyst Omphalocele Flat face Seizures Hypospadias Horizontal ribs Brachycephaly Pancreatic fibrosis Abnormal facial shape Delayed speech and language development Polysplenia Short tibia Cystic hygroma Clinodactyly Oral cleft Elbow dislocation Pectus carinatum Patent ductus arteriosus Narrow chest Syndactyly Short ribs Rhizomelia Intellectual disability, moderate Narrow palpebral fissure Pectus excavatum Microdontia Wormian bones Growth delay Cutaneous finger syndactyly Delayed eruption of teeth Recurrent fractures Proptosis Renal insufficiency Hypertension Hydrocephalus Muscular hypotonia Generalized hypotonia Hemangioma Macrocephaly Downslanted palpebral fissures Biliary cirrhosis Premature graying of hair High anterior hairline Macular dystrophy Generalized hyperpigmentation Protuberant abdomen Nephronophthisis Enlarged kidney Broad neck Cholangitis Blepharochalasis Broad philtrum Cataract Coloboma Muscle stiffness Low-set, posteriorly rotated ears Thin upper lip vermilion Mandibular prognathia Glaucoma Recurrent infections Microcephaly Redundant skin Multicystic kidney dysplasia Fused teeth Metopic synostosis Portal fibrosis Hemivertebrae Bile duct proliferation Cloverleaf skull Sparse eyebrow Widely spaced teeth Patent foramen ovale Stage 5 chronic kidney disease Hypoplastic colon Inguinal hernia Rod-cone dystrophy Hypoplasia of the small intestine Aplasia/Hypoplasia of the macula Acidosis Cerebral cortical hemiatrophy Retrognathia Elevated hepatic transaminase Proteinuria Joint laxity Sparse hair Dolichocephaly Smooth philtrum Everted lower lip vermilion Rib fusion Sparse eyelashes Chronic kidney disease Cystic renal dysplasia Broad forehead Cutis laxa Plagiocephaly Oxycephaly Hyperbilirubinemia Full cheeks Subcortical cerebral atrophy Left ventricular hypertrophy Cholestasis Lymphangioma Abnormality of the cerebellar vermis Ectodermal dysplasia Short philtrum Renal dysplasia Carious teeth Thoracolumbar kyphoscoliosis Concave nasal ridge Cleft soft palate Absent nipple Recurrent respiratory infections Prominent nasal tip Cerebellar hypoplasia Bladder exstrophy Tremor Optic atrophy Myopia Ureteral stenosis Spasticity Nystagmus Ataxia Amelia involving the lower limbs Eyelid coloboma Multiple impacted teeth Dentinogenesis imperfecta limited to primary teeth Absent external genitalia Attached earlobe Submucous cleft soft palate Periorbital wrinkles Phthisis bulbi Rootless teeth Advanced pneumatization of the mastoid process Unilateral cleft palate Abnormality of the vertebral spinous processes Abnormality of dentin Abnormality of the shape of the midface Lagopthalmos Upper limb peromelia Large earlobe Thoracolumbar scoliosis Thickened skin Specific learning disability Anal atresia Postaxial polydactyly Hypopigmentation of the skin Ascites Wide nose Thick eyebrow Thin vermilion border Downturned corners of mouth Renal hypoplasia Depressed nasal ridge Abnormality of the sella turcica Facial asymmetry Abnormality of the face Synophrys Rigidity Thick vermilion border Megalocornea Keratitis Premature loss of teeth Submucous cleft hard palate Anteriorly placed anus Thickened calvaria Abnormality of the vertebral column Mixed hearing impairment Cutaneous syndactyly Respiratory failure Pointed chin Wide intermamillary distance Dental malocclusion Bifid uvula Broad nasal tip Hypoplasia of the maxilla Abnormality of the cervical spine Cognitive impairment Splenomegaly Abnormality of the voice Shallow orbits Turricephaly Central hypotonia Hyperthyroidism Pathologic fracture High pitched voice Increased susceptibility to fractures Communicating hydrocephalus Abnormality of dental enamel Bowing of the long bones Abnormal form of the vertebral bodies Blue sclerae Abnormality of the ribs Bruising susceptibility Coronal craniosynostosis Vertebral compression fractures Osteopenia Pterygium Short columella Pulmonary artery stenosis Fibular hypoplasia Short humerus Dislocated radial head Limited elbow extension Disproportionate short-limb short stature Severe hydrops fetalis Short chin Prominent forehead Long philtrum Orbital craniosynostosis Crumpled long bones Multiple suture craniosynostosis Joint hyperflexibility Kyphosis Increased nuchal translucency Joint stiffness Lymphedema Abnormality of epiphysis morphology Subcutaneous nodule Nevus Palmoplantar keratoderma Papule Arthritis Hoarse voice Myalgia Arthralgia Skeletal muscle atrophy Visual impairment Flexion contracture Pain Bone pain Flat occiput Intrauterine growth retardation Abnormal bone structure Failure to thrive Abnormal axial skeleton morphology Complete duplication of the distal phalanges of the hand Diffuse skin atrophy Connective tissue nevi Osteopoikilosis Generalized limb muscle atrophy Hyperostosis Abnormal aortic morphology Generalized osteosclerosis Abnormal cortical bone morphology Generalized hypopigmentation Atypical scarring of skin Scleroderma Multiple lipomas Abnormality of femur morphology Abnormality of the radius Abnormality of the skeletal system Abnormality of the kidney Spontaneous abortion Congenital diaphragmatic hernia Renal agenesis Small hand Talipes Postnatal growth retardation Muscular hypotonia of the trunk Abnormality of the genitourinary system Conductive hearing impairment Depressivity Congestive heart failure Ptosis Disproportionate shortening of the tibia Postaxial polysyndactyly of foot Scrotal hypoplasia Radioulnar synostosis Shortening of the tibia Bilateral cleft lip and palate Prominent coccyx Urethral valve Caudal appendage Epicanthus inversus Skin dimples Bilateral conductive hearing impairment Diastasis recti Epiphyseal dysplasia Short 5th finger Bilateral cleft lip Broad foot Irregular vertebral endplates Shawl scrotum Facial cleft Supernumerary nipple Polysyndactyly of hallux Hypoplasia of the epiglottis Popliteal pterygium Hypoplastic distal humeri Platyspondyly Respiratory insufficiency Motor delay Anterolateral radial head dislocation Limited knee flexion/extension Limited elbow flexion/extension Limited knee flexion Astigmatism Increased fibular diameter Limited knee extension Axillary pterygium Limited elbow flexion Limited hip movement Severe short-limb dwarfism Hypermetropia Retinal dystrophy Hamartoma of tongue Microglossia Median cleft lip and palate Lateral clavicle hook Spondylometaphyseal dysplasia Abnormality of the larynx Dilation of lateral ventricles Thoracic dysplasia Median cleft lip Intestinal malrotation Preaxial hand polydactyly Tricuspid regurgitation Polycystic kidney dysplasia Abnormality of the genital system Pachygyria Cerebellar vermis hypoplasia Ambiguous genitalia Extrapulmonary sequestrum


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