Cleft palate, and Congestive heart failure

Diseases related with Cleft palate and Congestive heart failure

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


Top matches:

Low match EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY


EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

Low match AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS


Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.

AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS Is also known as vertebral anomalies|jarcho-levin syndrome|spondylothoracic dysplasia|spondylothoracic dysostosis|costovertebral dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS

Low match AARSKOG-SCOTT SYNDROME


Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

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Other less relevant matches:

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


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

Low match ARTERIAL TORTUOSITY SYNDROME


Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

Low match 3MC SYNDROME 3; 3MC3


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 MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

Low match ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5


Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib|arthrogryposis, distal, type iib|arthrogryposis with oculomotor limitation and electroretinal abnormalities|oculomelic amyoplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

Low match LEOPARD SYNDROME 1; LPRD1


LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

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

Top 5 symptoms//phenotypes associated to Cleft palate and Congestive heart failure

Symptoms // Phenotype % cases
Scoliosis Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Epicanthus Ptosis Hearing impairment Global developmental delay Blepharophimosis Inguinal hernia Pectus excavatum Hernia Hypospadias Low-set ears Umbilical hernia Low-set, posteriorly rotated ears Hypertension Strabismus Micrognathia Abnormality of cardiovascular system morphology Abnormal heart morphology Long fingers Wide nasal bridge High palate Seizures Growth delay Sensorineural hearing impairment Ventricular septal defect Broad forehead Hyperlordosis Polydactyly Wide intermamillary distance Long philtrum Kyphosis Hip dislocation Posteriorly rotated ears Webbed neck

Rare Symptoms - Less than 30% cases


Myocardial infarction Micropenis Midface retrusion Intellectual disability, mild Respiratory distress Talipes equinovarus Myopia Keratoglobus Cataract Pain Muscular hypotonia Conductive hearing impairment Abnormal facial shape Aortic valve stenosis Pectus carinatum Broad foot External ear malformation Shawl scrotum Hyperextensible skin Single transverse palmar crease Small hand Oral cleft Edema Cleft upper lip Delayed speech and language development Depressivity Talipes Joint hyperflexibility Skeletal dysplasia Flat face Abnormality of the skeletal system Hypertrophic cardiomyopathy Short palpebral fissure Long face Arachnodactyly Muscular hypotonia of the trunk Abnormality of the pinna Craniosynostosis Telecanthus Protruding ear Overfolded helix Scrotal hypoplasia Dandy-Walker malformation Deeply set eye Triangular face Overlapping toe Keratoconus Dilatation Fatigue Retinopathy Narrow mouth Alopecia Clinodactyly Limited elbow movement Restrictive ventilatory defect Overlapping fingers Coxa vara Abnormal lung morphology Lumbar hyperlordosis Clinodactyly of the 5th finger Malar flattening Hypoplasia of the corpus callosum Abnormal form of the vertebral bodies Vertebral segmentation defect Short thorax Preaxial polydactyly Dilated cardiomyopathy Spina bifida occulta Arthrogryposis multiplex congenita Scapular winging Radioulnar synostosis Severe short stature Congenital diaphragmatic hernia Neonatal hypotonia Finger syndactyly Camptodactyly of finger Microcephaly Depressed nasal bridge Macrocephaly Anteverted nares Respiratory insufficiency Respiratory tract infection Kyphoscoliosis Abnormal cardiac septum morphology Respiratory failure Arrhythmia Atrial septal defect Muscle weakness Flexion contracture Motor delay Cognitive impairment Cardiomyopathy Abnormality of the face Thick vermilion border Hypopigmentation of the skin Areflexia Localized neuroblastoma Increased number of skin folds Esotropia Camptodactyly Abnormality of the scrotum High forehead Upper limb asymmetry Median cleft palate Wide nose Hypermetropia Bulbous nose Joint stiffness Ophthalmoplegia Periorbital fullness Abnormality of eye movement Brachycephaly Abnormality of the foot Upslanted palpebral fissure Astigmatism Abnormality of skin pigmentation Ichthyosis Microphthalmia Smooth philtrum Broad eyebrow Lower limb asymmetry Hypoplasia of dental enamel Narrow nose Thickened skin Generalized hirsutism Cutis laxa Optic nerve hypoplasia Long neck Hypertrichosis Spotty hypopigmentation Tricuspid regurgitation Otosclerosis Febrile seizures Abnormality of the skin Nevus Full cheeks Microcornea Epiphyseal stippling Hypoplastic aortic arch Narrow palpebral fissure Irregular hyperpigmentation Hypoplastic nipples Neuroblastoma Narrow forehead Hamartoma Cerebellar vermis atrophy Microretrognathia Severe global developmental delay Sacral dimple Self-injurious behavior Microtia Ectopic kidney Abnormality of the musculature Broad hallux 2-3 toe syndactyly Abnormal mitral valve morphology Abnormality of retinal pigmentation Syndactyly Cafe-au-lait spot Failure to thrive Brachydactyly Abnormality of the genital system Ventriculomegaly Hydrocephalus Hypertonia Agenesis of corpus callosum Mutism Mitral regurgitation Hyperactivity Depressed nasal ridge Overgrowth Syncope Chest pain Cerebral cortical atrophy Aplasia of the ovary Pterygium Pulmonic stenosis Multiple cafe-au-lait spots Angina pectoris Abnormal aortic valve morphology Subvalvular aortic stenosis Multiple lentigines Missing ribs Parietal bossing Heart block Delayed menarche Coronary artery aneurysm Severe hearing impairment Bundle branch block Bilateral cryptorchidism Third degree atrioventricular block Unilateral renal agenesis Hypoplasia of the ovary Cubitus valgus Numerous nevi Delayed puberty Mandibular prognathia Joint contracture of the hand Macular dystrophy Hypoventilation Distal arthrogryposis Aplasia/Hypoplasia of the radius Ulnar deviation of finger Abnormality of the sternum Tarsal synostosis Abnormality of the hip bone Decreased muscle mass Abnormality of the rib cage Bilateral talipes equinovarus Mask-like facies Congenital contracture Bilateral ptosis Abnormal electroretinogram Hyposmia Bilateral single transverse palmar creases Narrow face Toe syndactyly Tapetoretinal degeneration Hyperkeratosis Amyoplasia Polyhydramnios Neoplasm Aggressive behavior Internally rotated shoulders Exophoria Firm muscles Decreased facial expression Limited wrist extension Retinal fold Absent phalangeal crease Prominent nasal bridge Congenital finger flexion contractures Round ear Decreased palmar creases Ulnar deviation of the wrist Duane anomaly Unilateral ptosis Adducted thumb Hiatus hernia Prominent coccyx Short foot High anterior hairline Genu recurvatum Megalocornea Broad palm Round face Hypoplasia of the maxilla Delayed eruption of teeth Everted lower lip vermilion Abnormal vertebral segmentation and fusion Short palm Attention deficit hyperactivity disorder Pes planus Behavioral abnormality Abnormality of the dentition Downslanted palpebral fissures Rib segmentation abnormalities Abnormality of the cervical spine Nystagmus Block vertebrae Paresthesia High myopia Limb undergrowth Waddling gait Limitation of joint mobility Retinal detachment Pulmonary hypoplasia Retinal degeneration Micromelia Gait disturbance Genu valgum Narrow chest Platyspondyly Autoimmunity Apnea Arthritis Glaucoma Abnormality of the odontoid process Cervical C2/C3 vertebral fusion Abnormality of the metaphysis Myopathic facies Abnormal levels of creatine kinase in blood Left ventricular noncompaction Cleft soft palate Ankle contracture Difficulty running Centrally nucleated skeletal muscle fibers Difficulty climbing stairs Calf muscle hypertrophy Minicore myopathy Congenital muscular dystrophy Knee flexion contracture Generalized muscle weakness Muscular dystrophy Facial palsy Elevated serum creatine phosphokinase Myopathy Increased endomysial connective tissue Mitochondrial depletion Abnormality of the intervertebral disk Abnormality of the ureter Urogenital fistula Abnormality of female internal genitalia Anomalous pulmonary venous return Rib fusion Disproportionate short-trunk short stature Meningocele Double outlet right ventricle Abnormality of immune system physiology Intrauterine growth retardation Prominent occiput Abnormality of the urinary system Hemivertebrae Spina bifida Abnormal vertebral morphology Abnormality of the ribs Confusion Recurrent respiratory infections Osteoarthritis Abnormality of epiphysis morphology Urethral valve Long palm Postnatal growth retardation Abnormality of the kidney Cleft lip Intellectual disability, moderate Patent ductus arteriosus Abnormality of the zygomatic bone Abnormal carotid artery morphology Median cleft lip and palate Renal agenesis Femoral hernia Arterial stenosis Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Myocarditis Esophagitis Aortic dissection Highly arched eyebrow Omphalocele Pulmonary artery stenosis Short 5th finger Caudal appendage Penoscrotal hypospadias Epicanthus inversus Skin dimples Bilateral conductive hearing impairment Bilateral cleft lip and palate Diastasis recti Bilateral cleft lip Wormian bones Irregular vertebral endplates Facial cleft Supernumerary nipple Bifid scrotum Elbow dislocation Epiphyseal dysplasia Abnormality of the genitourinary system Spontaneous abortion Cardiorespiratory arrest Aortic root aneurysm Rhizomelia Disproportionate short stature Cervical myelopathy Flattened epiphysis Myelopathy Ovoid vertebral bodies Barrel-shaped chest Vitreoretinopathy Hypoplasia of the odontoid process Progressive sensorineural hearing impairment Retinoschisis Vestibular dysfunction Bowing of the legs Spondyloepiphyseal dysplasia Back pain Genu varum Growth abnormality Sleep apnea Limited hip movement Delayed pubic bone ossification Prematurely aged appearance Thin skin Telangiectasia of the skin Rocker bottom foot Aortic aneurysm Pyloric stenosis Redundant skin Coxa valga Cardiac arrest Specific learning disability Sciatica Hip dysplasia Gastroesophageal reflux Macrotia Dyspnea Short nose Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Olivopontocerebellar hypoplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Dyskinesia, related diseases and genetic alterations Delayed speech and language development and Pulmonary arterial hypertension, related diseases and genetic alterations Flexion contracture and Micropenis, related diseases and genetic alterations Cryptorchidism and Bruising susceptibility, related diseases and genetic alterations Ataxia and Neonatal hypotonia, related diseases and genetic alterations Global developmental delay and Protruding ear, related diseases and genetic alterations

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