Congestive heart failure, and Skeletal dysplasia

Diseases related with Congestive heart failure and Skeletal dysplasia

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

Top matches:

Osteogenesis imperfecta type XVI (OI16) is characterized by prenatal onset of multiple fractures of ribs and long bones, blue sclerae, decreased ossification of the skull, and severe demineralization. Heterozygous family members may exhibit recurrent fractures with minimal trauma, osteopenia, and blue sclerae (Keller et al., 2018; Lindahl et al., 2018).

OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16 Is also known as oi, type xvi

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hepatomegaly
  • Congestive heart failure
  • Constipation


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmetal delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.

AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE Is also known as chondrodysplasia, megarbane-dagher-melki type

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE

While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1 ), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (OMIM ) and patients carried this diagnosis.Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.

PEROXISOME BIOGENESIS DISORDER 9B; PBD9B Is also known as refsum disease, adult, 2|peroxisome biogenesis disorder, pex7-related, atypical

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 9B; PBD9B

Other less relevant matches:

Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987).Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) (Skjeldal et al., 1987).Infantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B ), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7 ) on chromosome 6q.

REFSUM DISEASE, CLASSIC Is also known as heredopathia atactica polyneuritiformis|hmsn iv|phytanic acid oxidase deficiency|hereditary motor and sensory neuropathy iv|hmsn4|refsum disease, adult, 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about REFSUM DISEASE, CLASSIC

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan|saddan dysplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME

Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

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

Low match MEND SYNDROME

MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

FRANK-TER HAAR SYNDROME Is also known as ter haar syndrome|borrone dermatocardioskeletal syndrome|melnick-needles syndrome, autosomal recessive, formerly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FRANK-TER HAAR SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Skeletal dysplasia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Congestive heart failure and Skeletal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Wormian bones Growth delay Low-set ears Hernia Micromelia Scoliosis Sensorineural hearing impairment Seizures Cataract Kyphosis Midface retrusion Wide anterior fontanel Epiphyseal dysplasia Cleft palate Platyspondyly Ptosis Muscular hypotonia of the trunk Hypertension Arrhythmia Rhizomelia Hypertelorism Ichthyosis Depressed nasal bridge Umbilical hernia Micrognathia Cryptorchidism Ventricular septal defect

Rare Symptoms - Less than 30% cases

Congenital diaphragmatic hernia Intellectual disability, severe Hydrocephalus Hypoplasia of the corpus callosum Microcephaly Epiphyseal stippling Abnormality of the pinna Full cheeks Abnormal heart morphology Retinal degeneration Respiratory failure Wide nasal bridge Delayed cranial suture closure Nystagmus Elevated levels of phytanic acid Anosmia Sensorimotor neuropathy Shawl scrotum Polyneuropathy Osteoporosis High myopia Craniosynostosis Progressive sensorineural hearing impairment Brachydactyly Abnormality of the skeletal system Deeply set eye Genu valgum Hip dislocation Broad forehead Smooth philtrum Glaucoma Prominent coccyx Nyctalopia Abnormal facial shape High palate Respiratory distress Talipes equinovarus Thick vermilion border Single transverse palmar crease Hypospadias Pectus excavatum Inguinal hernia Redundant skin Sleep apnea Lumbar hyperlordosis Polydactyly Severe short stature Short long bone Conductive hearing impairment Short neck Spontaneous abortion Pulmonary arterial hypertension Recurrent fractures Cardiomegaly Limb undergrowth Wide nose Small for gestational age Narrow chest Ataxia Anteverted nares Postnatal growth retardation Cognitive impairment Frontal bossing Flexion contracture Pes cavus Cardiomyopathy Osteopenia Prominent forehead Peripheral neuropathy Rod-cone dystrophy Blindness Dilatation Beaking of vertebral bodies Bilateral cleft lip and palate Diastasis recti Short 5th finger Broad foot Bilateral cleft lip Cerebral cortical atrophy Irregular vertebral endplates Facial cleft Supernumerary nipple Concave nasal ridge Bilateral conductive hearing impairment Urethral valve Skin dimples Epicanthus inversus Penoscrotal hypospadias Caudal appendage Hyperactivity Abnormally large globe Failure to thrive Posteriorly rotated ears Genu recurvatum Bifid scrotum Agenesis of corpus callosum Syndactyly Hypertonia Ventriculomegaly Dental malocclusion Buphthalmos Elbow dislocation Edema Telecanthus Broad clavicles Micropenis Patent ductus arteriosus Clinodactyly Depressivity Epicanthus Cleft lip Serpentine fibula Cortical irregularity Renal diverticulum Bowel diverticulosis Arterial fibromuscular dysplasia Supravalvular aortic stenosis Congenital hemolytic anemia Intellectual disability, moderate Multiple skeletal anomalies Radioulnar synostosis Thoracolumbar kyphosis Preaxial polydactyly Abnormality of the genitourinary system Scrotal hypoplasia Omphalocele Anterior segment developmental abnormality Renal agenesis Vacuolated lymphocytes Broad alveolar ridges Abnormality of the kidney Highly arched eyebrow Small hand Oral cleft Hyperplasia of the maxilla Cleft upper lip Talipes Blepharophimosis Polyhydramnios Megalocornea Double outlet right ventricle Motor delay Bowing of the long bones Thickened skin Brachycephaly Clinodactyly of the 5th finger Abnormality of cardiovascular system morphology Downslanted palpebral fissures Olivopontocerebellar hypoplasia Mandibular prognathia Short phalanx of finger Gingival overgrowth Gynecomastia Short chin Osteolysis Abnormality of the metacarpal bones Dermal translucency Proptosis High forehead Hypoplastic aortic arch Thin vermilion border Broad nasal tip Mitral valve prolapse Delayed eruption of teeth Interphalangeal joint contracture of finger Hirsutism Short palm Corneal opacity Kyphoscoliosis Short philtrum Camptodactyly of finger Wide mouth Joint stiffness Protruding ear Camptodactyly Coarse facial features Cholelithiasis Acne Premature loss of teeth Bulbous nose Dandy-Walker malformation Wide intermamillary distance Flared metaphysis Esotropia Hypopigmentation of the skin Congenital glaucoma Long face Aortic valve stenosis Aseptic necrosis Hip dysplasia Toe syndactyly Prominent nasal bridge Abnormal cardiac septum morphology Low-set, posteriorly rotated ears Aggressive behavior Narrow forehead Narrow palpebral fissure Spotty hypopigmentation Broad hallux Long neck Otosclerosis Overlapping fingers Flat occiput Narrow nose Long fingers Tricuspid regurgitation Microretrognathia Metatarsus adductus Ectopic kidney Overlapping toe 2-3 toe syndactyly Self-injurious behavior Overfolded helix Sacral dimple Vascular tortuosity Cervical myelopathy Ascending tubular aorta aneurysm Limb muscle weakness Bilateral ptosis Progressive hearing impairment Leukodystrophy Pigmentary retinopathy Sensory impairment Renal cyst Neonatal hypotonia Multiple epiphyseal dysplasia Hyporeflexia Delayed speech and language development Polyneuritis Calcific stippling Short 5th metacarpal Distal lower limb amyotrophy Hammertoe Increased CSF protein Miosis Congenital cataract Exotropia Megalencephaly Abnormality of the clavicle Tibial bowing Femoral bowing Mesomelia Thoracic hypoplasia Acanthosis nigricans Epidermal acanthosis Abnormal renal physiology Generalized-onset seizure Otitis media Brain atrophy Severe global developmental delay Gastroesophageal reflux Hyperoxaluria Short fourth metatarsal Progressive visual loss Retinopathy Cloverleaf skull Thin ribs Respiratory insufficiency Beaded ribs Fractures of the long bones Dentinogenesis imperfecta Vertebral compression fractures Soft skin Agenesis of permanent teeth Delayed skeletal maturation Prolonged bleeding time Reduced number of teeth Blue sclerae Bruising susceptibility Joint hypermobility Constipation Hepatomegaly Short nose Microtia Autistic behavior Metaphyseal cupping Autism Visual loss Iliac crest serration Dysplastic sacrum Severe platyspondyly Squared iliac bones Hypoplastic ischia Spondylometaphyseal dysplasia Round face Delayed epiphyseal ossification Bell-shaped thorax Hypokinesia Deep philtrum Tachypnea Short ribs Large fontanelles Central apnea Metaphyseal chondrodysplasia Arterial stenosis Delayed calcaneal ossification Pulmonic stenosis Joint laxity Arthralgia Hypothyroidism Recurrent respiratory infections Anemia Limitation of knee mobility Arachnodactyly Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Limited hip movement Flattened epiphysis Limited elbow movement Joint hyperflexibility Hemolytic anemia Ovoid vertebral bodies Emphysema Ileus Bladder diverticulum Cor pulmonale Atelectasis Premature skin wrinkling Pulmonary artery stenosis Prematurely aged appearance Aortic aneurysm Vesicoureteral reflux Shock Cutis laxa Abnormality of the face Recurrent urinary tract infections Bilateral sensorineural hearing impairment Oligohydramnios Overgrowth Myelopathy Barrel-shaped chest Fibular bowing Arthritis Flat face Paresthesia Pectus carinatum Autoimmunity Respiratory tract infection Hyperlordosis Apnea Malar flattening Retinal detachment Gait disturbance Myopia Pain Muscular hypotonia Muscle weakness Enlarged cerebellum Aplasia/Hypoplasia of the mandible Pulmonary hypoplasia Limitation of joint mobility Vitreoretinopathy Back pain Hypoplasia of the odontoid process Disproportionate short stature Restrictive ventilatory defect Short thorax Vestibular dysfunction Bowing of the legs Spondyloepiphyseal dysplasia Genu varum Waddling gait Growth abnormality Coxa vara Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Abnormal lung morphology Osteoarthritis Anterior concavity of thoracic vertebrae


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