Congestive heart failure, and Webbed neck

Diseases related with Congestive heart failure and Webbed neck

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


Top matches:

High 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

High 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

High 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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match DIAMOND-BLACKFAN ANEMIA 1; DBA1


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

High match LARSEN-LIKE SYNDROME, B3GAT3 TYPE


Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

High match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Medium match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Medium match JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Low match DESMINOPATHY


Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.

DESMINOPATHY Is also known as desmin-related myofibrillar myopathy

Related symptoms:

  • Cardiomyopathy
  • Diarrhea
  • Arrhythmia
  • Constipation
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about DESMINOPATHY

Low match CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION


Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.

CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION Is also known as mdcl|lmna-related congenital muscular dystrophy|l-cmd

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION

Top 5 symptoms//phenotypes associated to Congestive heart failure and Webbed neck

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia

Common Symptoms - More than 50% cases


Abnormal cardiac septum morphology

Uncommon Symptoms - Between 30% and 50% cases


Ventricular septal defect

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture

Common Symptoms - More than 50% cases


Ptosis

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Abnormal heart morphology

Uncommon Symptoms - Between 30% and 50% cases


Seizures Hearing impairment Generalized hypotonia Downslanted palpebral fissures Epicanthus Pectus excavatum Atrial septal defect Cardiomyopathy Low-set ears High palate Cleft palate Sensorineural hearing impairment Muscular hypotonia Talipes equinovarus Depressed nasal bridge Hernia Feeding difficulties Constipation Failure to thrive Hypertrophic cardiomyopathy Coarctation of aorta Narrow chest Arrhythmia Leukemia Abnormality of cardiovascular system morphology Thrombocytopenia Cryptorchidism Pulmonic stenosis Proptosis Multiple lentigines Amblyopia Osteopenia Talipes Low posterior hairline Inguinal hernia Lymphedema Cataract Myocardial infarction Prominent forehead Triangular face Microcephaly Hydrocephalus Anteverted nares Frontal bossing Pectus carinatum Kyphoscoliosis Abnormal facial shape Edema Vomiting Posteriorly rotated ears Intellectual disability, mild Premature birth Neoplasm Cubitus valgus Low-set, posteriorly rotated ears Hip dislocation Wide nasal bridge Clinodactyly Hypermetropia Motor delay Alopecia Abnormality of the foot Bruising susceptibility

Rare Symptoms - Less than 30% cases


Telecanthus Retrognathia Hydronephrosis High forehead Clinodactyly of the 5th finger Short nose Cerebral atrophy Long philtrum Pancytopenia Behavioral abnormality Short thumb Abnormality of the dentition Ventriculomegaly Glaucoma Dolichocephaly Feeding difficulties in infancy Abnormal eyelash morphology Multiple cafe-au-lait spots Missing ribs Abnormal mitral valve morphology Abnormal aortic valve morphology Neck muscle weakness Subvalvular aortic stenosis Respiratory insufficiency due to muscle weakness Aplasia/Hypoplasia of the eyebrow Neurological speech impairment Heart murmur Intrauterine growth retardation Ectropion Abnormal palate morphology Growth hormone deficiency Intestinal malrotation Macrocephaly Optic atrophy 11 pairs of ribs Bone marrow hypocellularity Nystagmus Hypotrichosis Cutis laxa Bicuspid aortic valve Hyperextensible skin Patent foramen ovale Deep palmar crease Sparse hair Facial asymmetry Brachydactyly Myopia Pterygium Patent ductus arteriosus Postnatal growth retardation Hypogonadism Polyhydramnios Left ventricular hypertrophy Cardiomegaly Myelodysplasia Azoospermia Congenital glaucoma Gastroesophageal reflux Arnold-Chiari type I malformation Fever Neurofibromas Failure to thrive in infancy Poor suck Delayed skeletal maturation Microdontia Dental malocclusion Osteoporosis Cerebral cortical atrophy Abnormal bleeding High, narrow palate Pes planus Genu valgum Splenomegaly Abdominal distention Hypertension Abnormal levels of creatine kinase in blood Hypospadias Dilatation Myopathy Kyphosis Abnormal lung morphology Respiratory insufficiency Abnormality of skin pigmentation Dilated cardiomyopathy Fatigue Delayed speech and language development Pain Abnormality of the sternum Hyperkeratosis Arachnodactyly Astigmatism Protruding ear Hyperlordosis Muscular dystrophy Overlapping fingers Facial palsy Camptodactyly Narrow mouth Neonatal hypotonia Elevated serum creatine phosphokinase Depressivity Wide intermamillary distance Radioulnar synostosis Bilateral talipes equinovarus Cafe-au-lait spot Mitral regurgitation Depressed nasal ridge Congenital muscular dystrophy Arthrogryposis multiplex congenita Aortic valve stenosis Bilateral ptosis Muscle weakness Restrictive ventilatory defect Absent eyelashes Dystrophic fingernails Abnormal hair pattern Poor appetite Laryngeal cleft Thick upper lip vermilion Functional abnormality of the gastrointestinal tract Tongue thrusting Woolly hair Short attention span Atopic dermatitis Hypoplasia of the zygomatic bone Abnormality of the gastrointestinal tract Alopecia of scalp Hyperkeratosis pilaris Abnormality of the optic nerve Abnormality of the hairline Abnormality of the ulna Enlarged kidney Premature skin wrinkling Sparse or absent eyelashes Abnormal myocardium morphology Abnormality of the testis Underdeveloped supraorbital ridges Abnormality of hair texture Increased nuchal translucency Endocarditis Frontal balding Excessive wrinkled skin Anterior creases of earlobe Abnormality of the optic disc Abnormality of the pulmonary artery Hyperextensibility of the finger joints Abnormal tricuspid valve morphology Generalized ichthyosis Patchy alopecia Optic nerve dysplasia Hypoplasia of the frontal lobes Thickened helices Slow-growing hair Gastrointestinal dysmotility Abnormality of refraction Cavernous hemangioma Delayed CNS myelination Spina bifida occulta Malnutrition Anal stenosis Narrow forehead Sparse eyelashes Narrow palate Abnormality of the nail Aspiration Cerebral visual impairment Hyperpigmentation of the skin Thickened skin Decreased body weight Open mouth Inflammatory abnormality of the skin Hemiparesis Fine hair Abnormality of the cardiovascular system Aplasia/Hypoplasia of the corpus callosum Progressive visual loss Generalized muscle weakness Vesicoureteral reflux Nevus Full cheeks Palmoplantar keratoderma Sleep disturbance Hepatic steatosis Thick vermilion border Retinal dystrophy Bulbous nose Falls Oculomotor apraxia Hemangioma Submucous cleft hard palate Obsessive-compulsive behavior Generalized hyperpigmentation Curly hair Biparietal narrowing Abnormal heart valve morphology Long palpebral fissure Infantile spasms Neurodevelopmental delay Hydroureter Puberty and gonadal disorders Open bite Large for gestational age Absent eyebrow Chronic otitis media Sleep apnea Melanocytic nevus Pleural effusion Scaling skin Sparse eyebrow Brittle hair Redundant skin Deep philtrum Relative macrocephaly Abnormality of vision Palmoplantar hyperkeratosis Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Abnormal location of ears Immunodeficiency Morphological abnormality of the gastrointestinal tract Urethral stenosis Megakaryocyte dysplasia Congenital thrombocytopenia Bilateral camptodactyly Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Macular hypoplasia Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Long hallux Diarrhea Abnormality of the head Nasolacrimal duct obstruction Broad columella Abnormal thrombocyte morphology Labial hypoplasia Aplasia/Hypoplasia of the earlobes Nuclear cataract Broad hallux phalanx Mitral stenosis Ectopic anus Duodenal atresia Eyelid coloboma Chronic constipation Abnormality of the curvature of the vertebral column Proximal muscle weakness Diastasis recti Trifascicular block Limb-girdle muscle weakness Spinal rigidity Generalized amyotrophy Cachexia Poor head control Severe muscular hypotonia EMG abnormality Decreased fetal movement Limitation of joint mobility Joint hyperflexibility Limb muscle weakness Gait disturbance Skeletal muscle atrophy Restrictive heart failure Distal muscle weakness Late-onset proximal muscle weakness Left anterior fascicular block Hyporeflexia of lower limbs Right ventricular cardiomyopathy Skeletal myopathy Left bundle branch block Bulbar palsy Right bundle branch block Atrioventricular block EMG: myopathic abnormalities Ventricular tachycardia Atrial fibrillation Sudden cardiac death Retinal dysplasia Double outlet right ventricle Cutaneous T-cell lymphoma Thin upper lip vermilion Iris coloboma Tachycardia Anal atresia Smooth philtrum Toe syndactyly Small for gestational age Finger syndactyly Skin rash Attention deficit hyperactivity disorder Coloboma Craniosynostosis Intellectual disability, moderate Hypoglycemia Hypothyroidism Microcornea Recurrent respiratory infections Agenesis of corpus callosum Recurrent infections Microphthalmia Long face Syndactyly Spasticity Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Single transverse palmar crease Postural instability Bipolar affective disorder Schizophrenia Wheezing Transposition of the great arteries Natal tooth Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Hypoplastic left heart Flat occiput Hammertoe Chorioretinal coloboma Trigonocephaly Hand polydactyly Pyloric stenosis Infantile muscular hypotonia Decreased antibody level in blood Tachypnea Holoprosencephaly Multicystic kidney dysplasia Horseshoe kidney Spina bifida Leukodystrophy Short toe Sinusitis Pachygyria Abnormal form of the vertebral bodies Eczema Dehydration Otitis media Joint hypermobility Calf muscle hypertrophy Peripheral axonal neuropathy Round ear Hypoventilation Abnormality of the rib cage Brachycephaly Tapetoretinal degeneration Retinal fold Unilateral ptosis Duane anomaly Ulnar deviation of the wrist Midface retrusion Decreased palmar creases Respiratory distress Keratoglobus Congenital finger flexion contractures Joint laxity Absent phalangeal crease Limited wrist extension Amyoplasia Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Transient erythroblastopenia Bifid thoracic vertebrae Elevated red cell adenosine deaminase activity Hypoplastic anemia Persistence of hemoglobin F Branchial cyst Erythroid hypoplasia Distal arthrogryposis Microtia Everted upper lip vermilion Rhizomelia Thoracic hypoplasia Metatarsus adductus Spondyloepiphyseal dysplasia Decreased muscle mass Macular dystrophy Sandal gap Accelerated skeletal maturation Microretrognathia Joint dislocation Elbow flexion contracture Meningitis Long fingers Vertebral segmentation defect Aplasia/Hypoplasia of the radius Abnormality of the hip bone Blue sclerae Tarsal synostosis Congenital diaphragmatic hernia Mitral valve prolapse Keratoconus Esotropia Short metacarpal Recurrent fractures Thick eyebrow Flat face Ulnar deviation of finger Partial duplication of thumb phalanx Congenital hypoplastic anemia Aortic root aneurysm Delayed menarche Cleft lip Micropenis Mandibular prognathia Conductive hearing impairment Anemia Delayed puberty Chest pain Aplasia of the ovary Coronary artery aneurysm Numerous nevi Hypoplasia of the ovary Third degree atrioventricular block Parietal bossing Lethargy Syncope Limited elbow movement Overgrowth Hyposmia Angina pectoris Abnormality of the genital system Heart block Severe hearing impairment Bundle branch block Bilateral cryptorchidism Unilateral renal agenesis Scapular winging Pallor Nausea and vomiting Parietal foramina Absent thumb Unilateral cleft lip Reticulocytopenia Anemia of inadequate production Increased mean corpuscular volume Aplastic anemia Decreased facial expression Osteosarcoma Hypoplastic ilia Thrombocytosis Macrocytic anemia Acute myeloid leukemia Myeloid leukemia Vertebral fusion Cleft upper lip Colon cancer Firm muscles Delayed cranial suture closure Triphalangeal thumb Exophoria Abnormality of the hand Hypoplasia of the radius Abnormal dermatoglyphics Internally rotated shoulders Hydrops fetalis Abnormality of the skeletal system Neutropenia Nausea Narrow nasal bridge Upper limb undergrowth Ichthyosis Pectus excavatum of inferior sternum Increased endomysial connective tissue Dysphagia Minicore myopathy Mitochondrial depletion Dysarthria Hepatomegaly Ataxia Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Loose anagen hair Blindness Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Schwannoma Synovitis Intellectual disability, severe Hypertonia Restrictive cardiomyopathy Aggressive behavior Dry skin Abnormality of the cerebral white matter Knee flexion contracture Nail dystrophy Pruritus Scarring Erythema Respiratory tract infection Irritability Abnormality of the kidney Abnormality of the eye Mutism Myopathic facies Left ventricular noncompaction EEG abnormality Umbilical hernia Coarse facial features Macrotia Difficulty climbing stairs Autism Hyperhidrosis Centrally nucleated skeletal muscle fibers Encephalopathy Difficulty running Malar flattening Ankle contracture Cleft soft palate Shield chest Atrial flutter Abnormally large globe Prominent antitragus Joint contracture of the hand Headache Narrow face Bilateral single transverse palmar creases Adducted thumb Abnormal electroretinogram Cognitive impairment Congenital contracture Bilateral elbow dislocations Metacarpophalangeal joint hyperextensibility Broad distal phalanges of all fingers Spatulate thumbs Enlarged metaphyses Rod-cone dystrophy Accessory carpal bones Hypertropia Shoulder dislocation Multiple joint dislocation Talipes equinovalgus Knee dislocation Lumbar scoliosis Abnormality of the abdominal wall Endocardial fibroelastosis Mask-like facies Small face Generalized osteoporosis Abnormality of retinal pigmentation Abdominal pain Nonimmune hydrops fetalis Radial deviation of finger Drusen Malignant hyperthermia Gonadal dysgenesis Abnormality of blood and blood-forming tissues Neuroblastoma Abnormality of the vertebral column Male infertility Cystic hygroma Areflexia Abnormality of color vision Leukocytosis Abnormality of the coagulation cascade Elevated alkaline phosphatase Lumbar hyperlordosis Deeply set eye Arnold-Chiari malformation Plagiocephaly Clumsiness Primary amenorrhea Ventricular hypertrophy Amenorrhea Joint stiffness Blepharophimosis Retinopathy Ophthalmoplegia Abnormality of eye movement Broad forehead Axial muscle weakness



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Anteverted nares, related diseases and genetic alterations Intellectual disability, severe and Malabsorption, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more