Brachydactyly, and Cyanosis

Diseases related with Brachydactyly and Cyanosis

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


Top matches:

Medium match TETRALOGY OF FALLOT


Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

Medium match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR


Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Medium match COFFIN-LOWRY SYNDROME


Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

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Other less relevant matches:

Low match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Low match HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN


Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

Low match CHONDRODYSPLASIA, GREBE TYPE


Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997).

CHONDRODYSPLASIA, GREBE TYPE Is also known as grebe chondrodysplasia|grebe dysplasia|achondrogenesis, brazilian|acromesomelic dysplasia, grebe type|amdg|achondrogenesis, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA, GREBE TYPE

Low match OCCIPITAL HORN SYNDROME


Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.

OCCIPITAL HORN SYNDROME Is also known as eds ix, formerly|eds ix|ehlers-danlos syndrome type ix|ehlers-danlos syndrome type 9|x-linked cutis laxa|ehlers-danlos syndrome, occipital horn type, formerly|eds9, formerly|cutis laxa, x-linked, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OCCIPITAL HORN SYNDROME

Low match WOLCOTT-RALLISON SYNDROME


Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

WOLCOTT-RALLISON SYNDROME Is also known as iddm-med syndrome|med-iddm syndrome|wolcott-rallison syndrome|wrs|early-onset diabetes mellitus with multiple epiphyseal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOLCOTT-RALLISON SYNDROME

Low match MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM


Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Low match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III


Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type|low-birth-weight dwarfism with skeletal dysplasia|mopd i|mopd types i and iii|osteodysplastic primordial dwarfism, type i|primordial microcephalic dwarfism, crachami type|mopd|cephaloske

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Top 5 symptoms//phenotypes associated to Brachydactyly and Cyanosis

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Cyanosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the skeletal system Kyphosis Jaundice Hepatosplenomegaly Hearing impairment High palate Dolichocephaly Hypertonia Pectus carinatum Inguinal hernia Umbilical hernia Depressed nasal bridge Delayed skeletal maturation Microcephaly Anemia Generalized hypotonia Abnormal facial shape Scoliosis Anteverted nares Downslanted palpebral fissures Macrocephaly Spasticity Renal insufficiency Hypertelorism Hepatomegaly Intrauterine growth retardation Joint hypermobility Epicanthus Low-set ears Ventricular septal defect Short neck Hydrocephalus Postnatal growth retardation Pectus excavatum Coxa valga Hypothyroidism Macrotia Severe short stature Flexion contracture Genu valgum Osteoporosis Proptosis Dyspnea Cryptorchidism Coarse hair Muscular hypotonia Thin vermilion border Platyspondyly Hip dislocation Osteopenia Heart murmur High forehead Short humerus Mitral regurgitation

Rare Symptoms - Less than 30% cases


Optic atrophy Hypoplasia of the corpus callosum Hiatus hernia Abnormality of the intervertebral disk Intellectual disability, severe Cutis laxa Redundant skin Mandibular prognathia Abnormal form of the vertebral bodies Sensorineural hearing impairment Cerebellar vermis hypoplasia Short metacarpal Kyphoscoliosis Gait disturbance Coarse facial features Single transverse palmar crease Cataract Cognitive impairment Pes planus Intellectual disability, mild Thick vermilion border Mental deterioration Joint hyperflexibility Frontal bossing Hyperlordosis Skeletal muscle atrophy Large iliac wings Large hands Abnormality of the pinna Limb undergrowth Recurrent upper respiratory tract infections Prolonged neonatal jaundice Short femur Short digit Diarrhea Hydronephrosis Short palm Polydactyly Specific learning disability Hepatitis Blue sclerae Abnormality of the face Wormian bones Rickets Osteomalacia Abnormality of the skull Macroglossia Hernia Abnormality of neuronal migration Neurodevelopmental delay Broad palm Soft skin Narrow iliac wings Ataxia Pain Splenomegaly Aplastic clavicle Central hypothyroidism Hemolytic anemia Edema Hyperbilirubinemia Acute kidney injury Thoracolumbar kyphosis Abnormality of the metaphysis Joint stiffness Abnormality of the pubic bone Delayed myelination Muscle weakness Broad neck Talipes equinovarus Congestive heart failure Preauricular pit Gastroesophageal reflux Micrognathia Patent ductus arteriosus Posteriorly rotated ears Retrognathia High, narrow palate Abnormal heart morphology Failure to thrive Ventricular hypertrophy Strabismus Hyperactivity Hypoglycemia Tetralogy of Fallot Hypotrichosis Pulmonic stenosis Increased intracranial pressure Cardiomyopathy Sparse hair Atrial septal defect Sparse scalp hair Thick lower lip vermilion Delayed speech and language development Prominent forehead Ptosis Paralysis Abnormality of cardiovascular system morphology Clinodactyly of the 5th finger Coarctation of aorta Ventriculomegaly Small epiphyses Enlarged thorax Thin bony cortex Hypoplastic toenails Multiple epiphyseal dysplasia Acute hepatic failure Barrel-shaped chest Renal tubular dysfunction Cone-shaped epiphyses of the phalanges of the hand Ketoacidosis Overweight Insulin-resistant diabetes mellitus Exocrine pancreatic insufficiency Hypoplasia of the odontoid process Hyperuricemia Glycosuria Steatorrhea Irregular vertebral endplates Decreased hip abduction Carpal bone hypoplasia Intracerebral periventricular calcifications Pulmonary arterial hypertension Mitral valve prolapse Abnormality of the cardiovascular system Limitation of joint mobility Ascites Tachycardia Developmental regression Aggressive behavior Behavioral abnormality Ivory epiphyses of the toes Irregular tarsal ossification Ivory epiphyses of the phalanges of the hand Flattened epiphysis Abnormality of pancreas morphology Reduced pancreatic beta cells Irregular carpal bones Bilateral coxa valga Transient neonatal diabetes mellitus Shortening of all middle phalanges of the fingers Chronic hepatic failure Atlantoaxial dislocation Spondyloepiphyseal dysplasia Hip subluxation Pancreatic hypoplasia Respiratory distress Short thorax Recurrent fractures Hyperglycemia Abnormality of fibula morphology Arrhythmia Broad clavicles Long neck Synostosis of joints Absent tibia Abnormality of the sense of smell Keloids Gastroparesis Thick hair Femoral hernia Venous insufficiency Bladder diverticulum Avascular necrosis of the capital femoral epiphysis Aplasia/hypoplasia of the humerus Prominent superficial veins Broad ribs Generalized joint laxity Abnormality of the wrist Premature skin wrinkling Hypothermia Esophagitis Down-sloping shoulders Atypical scarring of skin Carpal synostosis Exostoses Short clavicles Dislocated radial head Capitate-hamate fusion Rudimentary to absent tibiae Epiphyseal dysplasia Acidosis Type I diabetes mellitus Abnormality of epiphysis morphology Dehydration Microdontia Triangular face Coma Neutropenia Nephropathy Hepatic failure Hypermetropia Clinodactyly Irritability Elevated hepatic transaminase Weight loss Pelvic bone exostoses Brachycephaly Diabetes mellitus Upslanted palpebral fissure Obesity Motor delay Humerus varus Carotid artery tortuosity Aortic rupture Abnormality of esophagus physiology Ureteral obstruction Persistent open anterior fontanelle Limited knee extension Bladder carcinoma Recurrent otitis media Protuberant abdomen Thickened skin Preaxial polydactyly Epileptic spasms Submucous cleft hard palate Hip contracture Disproportionate short stature Partial agenesis of the corpus callosum Long nose Cortical gyral simplification Femoral bowing Prominent occiput Hydroureter Multiple joint contractures Diabetes insipidus Elbow dislocation Abnormality of the urinary system Arachnoid cyst Abnormality of the metacarpal bones Sacral dimple Lissencephaly Sparse eyelashes Absence seizures Short chin Knee flexion contracture Muscle stiffness Bilateral single transverse palmar creases Elbow flexion contracture Sparse and thin eyebrow Short thumb Bowing of the long bones Severe intrauterine growth retardation Thickened nuchal skin fold Pachygyria Abnormally ossified vertebrae Cleft vertebral arch Absent knee epiphyses Enlarged metaphyses Bowed humerus Bifid femur Abnormality of the tragus Shoulder flexion contracture Abnormality of the distal phalanx of finger Loss of eyelashes Abnormality of calcium-phosphate metabolism Aplasia/hypoplasia of the femur Small anterior fontanelle Hypoplasia of the frontal lobes Long clavicles Delayed epiphyseal ossification Tethered cord Broad distal phalanx of finger Abnormality of the upper urinary tract Thin eyebrow Colpocephaly Profound global developmental delay Agenesis of cerebellar vermis 11 pairs of ribs Abnormal cortical gyration Hypoplastic ilia Long foot Flat acetabular roof Abnormality of finger Heterotopia Fine hair Progressive hearing impairment J-shaped sella turcica Cleft palate Abnormality of nasopharyngeal adenoids Localized skin lesion Dysplastic aortic valve Focal seizures, afebril Intervertebral space narrowing Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Anisopoikilocytosis Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Morphological abnormality of the central nervous system Obstructive lung disease Abnormality of the optic disc Respiratory insufficiency Hyperplasia of the maxilla Hypochromic anemia Inspiratory stridor Increased mean corpuscular volume Communicating hydrocephalus Beaking of vertebral bodies Edema of the lower limbs Insomnia Orthostatic hypotension Distal arthrogryposis Protruding tongue Pericardial effusion Tachypnea Fever Malar flattening Renal hypoplasia Corneal opacity Status epilepticus Hypsarrhythmia Oligohydramnios Sloping forehead Prominent nose Premature birth Bifid uvula Renal cyst Bulbous nose Polymicrogyria Dry skin Micromelia Small for gestational age Microtia Cerebral atrophy Apnea Abnormality of the kidney Muscular hypotonia of the trunk Abnormality of the nervous system Rigidity Skeletal dysplasia Micropenis Hyperkeratosis Respiratory failure Glaucoma Hypogonadism Agenesis of corpus callosum Cerebellar hypoplasia Alopecia Recurrent respiratory infections Abnormal cardiac septum morphology Limited elbow extension Abnormality of retinal pigmentation Aplasia/Hypoplasia of the cerebellum Abnormality of dental morphology Self-injurious behavior Prominent supraorbital ridges Schizophrenia Sleep apnea Aplasia/Hypoplasia of the corpus callosum Widely spaced teeth Narrow palate Hypertrophic cardiomyopathy Abnormality of the hair Wide anterior fontanel Decreased body weight Emphysema Low-set, posteriorly rotated ears Open mouth Craniosynostosis Psychosis Dental malocclusion Tetraplegia Hypoplasia of the maxilla Hypodontia Delayed eruption of teeth Attention deficit hyperactivity disorder Tapered finger Highly arched eyebrow Cutis marmorata Loss of consciousness Wide nose Myelopathy Stooped posture Cataplexy Hyperconvex fingernails Abnormal tricuspid valve morphology Broad finger Short nose Thick nasal alae Abnormal diaphysis morphology Premature loss of primary teeth Rectal prolapse Hyperextensibility of the finger joints Advanced eruption of teeth Abnormal aortic valve morphology Broad hallux Delayed closure of the anterior fontanelle Craniofacial hyperostosis Abnormal mitral valve morphology Restrictive cardiomyopathy Hypoplastic fingernail Acrocyanosis Severe sensorineural hearing impairment Spinal canal stenosis Anteriorly placed anus Atonic seizures Thickened calvaria Abnormality of digit Progressive spasticity Everted lower lip vermilion Short distal phalanx of finger Retinoschisis Enlarged cisterna magna Loose anagen hair Abnormal location of ears Superior pectus carinatum Nasal speech Dermal translucency Abnormality of the pulmonary artery Thickened helices Peripheral pulmonary artery stenosis Slow-growing hair Abnormality of refraction Redundant neck skin Abnormality of the testis Abnormally large globe Abnormality of the nasal bridge Hypomagnesemia Fragile nails Patent foramen ovale Abnormality of the elbow Failure to thrive in infancy Arnold-Chiari type I malformation Atopic dermatitis Natal tooth Freckling Overfolded helix Abnormality of coagulation Aplasia/Hypoplasia of the eyebrow Broad fingertip Deep philtrum Thick eyebrow Dandy-Walker malformation Carious teeth Dilated cardiomyopathy Severe global developmental delay Neurological speech impairment Wide mouth Protruding ear Ichthyosis Feeding difficulties in infancy Telecanthus Webbed neck Growth hormone deficiency Wide intermamillary distance Cerebral cortical atrophy Relative macrocephaly Eczema Low posterior hairline Thin skin Cafe-au-lait spot Hyperpigmentation of the skin Hoarse voice Hypocalcemia Abnormality of the fingernails Peripheral neuropathy Abnormal palate morphology Infantile muscular hypotonia Arnold-Chiari malformation Optic nerve hypoplasia Pseudoepiphyses of the metacarpals Lumbar kyphosis Delayed cranial suture closure Fibular hypoplasia Valgus hand deformity Aplasia/Hypoplasia of metatarsal bones Acromesomelia Underdeveloped supraorbital ridges Aplasia/Hypoplasia involving the metacarpal bones Pes valgus Aplasia/Hypoplasia of the patella Constrictive median neuropathy Short 1st metacarpal Poor appetite Dysostosis multiplex Short tibia Hyperventilation Polycythemia Double outlet right ventricle Hallux valgus Metatarsus adductus Hypoplasia of the ulna Short middle phalanx of finger Hypoplasia of the radius Truncus arteriosus Disproportionate short-limb short stature Aortic regurgitation Hydrops fetalis Short phalanx of finger Osteoarthritis Dysphagia Long philtrum Postaxial hand polydactyly Cholestasis Respiratory tract infection Bilateral ptosis Poor suck Hyperextensible skin Osteolysis Coxa vara Narrow face Dental crowding Chronic diarrhea Large fontanelles Right bundle branch block Recurrent urinary tract infections Broad forehead Dilatation Cerebral calcification Convex nasal ridge Hip dysplasia Bruising susceptibility Long face Narrow chest Hemiparesis Sinusitis Scarring Increased body weight Joint laxity Easy fatigability Clubbing Abnormality of the ribs Right ventricular hypertrophy Uterine prolapse Muscle cramps Myoglobinuria Progressive encephalopathy Reticulocytosis Rhabdomyolysis Aphasia Emotional lability Hemiplegia Spastic tetraparesis Purpura Exercise intolerance Tetraparesis Migraine Retinal dystrophy Increased muscle fatiguability Muscular dystrophy Myalgia Feeding difficulties Rod-cone dystrophy Visual loss Encephalopathy Myopathy Fatigue Vomiting Drumstick terminal phalanges Abnormality of the nasal alae Thick nasal septum Bifid sternum Decreased mean corpuscular volume Recurrent myoglobinuria Pulmonary artery atresia Hypoglycorrhachia Short foot Postaxial polydactyly Hirsutism Paresthesia Talipes Breathing dysregulation Interrupted aortic arch Right ventricular failure Abnormal nasal morphology Endocarditis Overriding aorta Pulmonary valve atresia Zonular cataract Exercise-induced muscle cramps Hemoglobinuria Stomatocytosis Conjugated hyperbilirubinemia Hyperkalemia Tetralogy of Fallot with absent pulmonary valve Inability to walk Paraplegia Spastic paraplegia Absent speech Absence of the pulmonary valve Hyperreflexia Nystagmus Exercise-induced myoglobinuria Bifid first metacarpal



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