Brachydactyly, and Jaundice

Diseases related with Brachydactyly and Jaundice

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


Top matches:

Medium 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

Medium 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

Medium 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

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Other less relevant matches:

Medium 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

Medium 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 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

Low match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Low 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

Low match CRANIOECTODERMAL DYSPLASIA 3; CED3


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 discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Micrognathia
  • Brachydactyly
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 3; CED3

Low match SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10


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 ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hepatomegaly
  • Brachydactyly
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10

Top 5 symptoms//phenotypes associated to Brachydactyly and Jaundice

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormality of the skeletal system Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Renal insufficiency

Uncommon Symptoms - Between 30% and 50% cases


Anemia Growth delay Ventricular septal defect Kyphosis Severe short stature Polydactyly Genu valgum Hepatosplenomegaly Microcephaly High palate Hip dislocation Flexion contracture Hepatomegaly Hypertonia Generalized hypotonia Muscular hypotonia Hypothyroidism Abnormal heart morphology Obesity Intrauterine growth retardation Diarrhea Hearing impairment Scoliosis Osteoporosis Abnormality of the pinna Osteopenia Hernia Short humerus Hydronephrosis Joint laxity Postaxial polydactyly Limb undergrowth Spasticity Cholestasis Blue sclerae Platyspondyly Dolichocephaly Postaxial hand polydactyly Abnormal facial shape Visual loss Hyperbilirubinemia Cryptorchidism Splenomegaly Micrognathia Paralysis Preauricular pit Hemolytic anemia

Rare Symptoms - Less than 30% cases


Sparse hair Abnormality of the urinary system Polymicrogyria Hepatitis Specific learning disability Short palm Joint hypermobility Coxa valga Wormian bones Narrow chest Dry skin Clinodactyly Single transverse palmar crease Cutis laxa Prominent nose Pes planus Tetralogy of Fallot Sparse and thin eyebrow High forehead Coarctation of aorta Dilatation Intellectual disability, mild Heterotopia Downslanted palpebral fissures Respiratory distress Ptosis Cerebellar vermis hypoplasia Postnatal growth retardation Abnormality of the kidney Poor suck Epicanthus Patent ductus arteriosus Overweight Abnormality of the metaphysis Microdontia Cone-shaped epiphyses of the phalanges of the hand Respiratory tract infection Abnormal cardiac septum morphology Hepatic failure Thin vermilion border Central hypothyroidism Failure to thrive Delayed skeletal maturation Cleft palate Depressed nasal bridge Rickets Increased body weight Respiratory insufficiency Atrial septal defect Clinodactyly of the 5th finger Posteriorly rotated ears Micropenis Abnormality of the pubic bone Large iliac wings Proptosis Aplastic clavicle Dyspnea Hydroureter Scaphocephaly Osteomalacia Hypoglycemia Fine hair Umbilical hernia Macrotia Inguinal hernia Chronic kidney disease Hirsutism Heart murmur Acute kidney injury Pectus carinatum Talipes equinovarus Stage 5 chronic kidney disease Nephronophthisis Prolonged neonatal jaundice Rod-cone dystrophy Hepatic fibrosis Short phalanx of finger Delayed myelination Short femur Macrocephaly Hydrocephalus Purpura Rhizomelia Pulmonic stenosis Pain Ataxia Retinal dystrophy Hypoplasia of teeth Small anterior fontanelle Aplasia/hypoplasia of the femur Hypoplasia of the frontal lobes Abnormality of calcium-phosphate metabolism Abnormality of the upper urinary tract Abnormality of the intervertebral disk Abnormally ossified vertebrae Long clavicles Tethered cord Broad distal phalanx of finger Thin eyebrow Colpocephaly Profound global developmental delay Agenesis of cerebellar vermis 11 pairs of ribs Abnormal cortical gyration Loss of eyelashes Congestive heart failure Abnormality of the distal phalanx of finger Immunodeficiency Protruding ear Feeding difficulties in infancy Intellectual disability, moderate Anxiety Pneumonia Sandal gap Widely spaced teeth Hypospadias Depressivity Recurrent infections Abnormality of the dentition Shoulder flexion contracture Myopia Wide nasal bridge Feeding difficulties Strabismus Bifid first metacarpal Cleft vertebral arch Hypoplastic ilia Enlarged metaphyses Bowed humerus Bifid femur Abnormality of the tragus Absent knee epiphyses Abnormality of finger Long foot Absence seizures Elbow dislocation Short ribs Preaxial polydactyly Oculomotor apraxia Short long bone Abnormality of the metacarpal bones Sacral dimple Lissencephaly Sparse eyelashes Cone-shaped epiphysis Glucose intolerance Short chin Diabetes insipidus Knee flexion contracture Muscle stiffness Bilateral single transverse palmar creases Thoracic hypoplasia Elbow flexion contracture Visual field defect Bell-shaped thorax Short thumb Thoracic dysplasia Bowing of the long bones Pachygyria Large hands Multiple joint contractures Sagittal craniosynostosis Ventriculomegaly Peripheral pulmonary artery stenosis Short nail Flat acetabular roof Bilateral postaxial polydactyly Broad nail Delayed epiphyseal ossification Thickened nuchal skin fold Arachnoid cyst Severe intrauterine growth retardation 3-4 toe syndactyly Epileptic spasms Submucous cleft hard palate Oral cleft Hip contracture Blindness Broad palm Disproportionate short stature Partial agenesis of the corpus callosum Cleft lip Long nose Cortical gyral simplification Femoral bowing Prominent occiput Nyctalopia Retinal degeneration Coloboma Wide nose Ectodermal dysplasia Endocarditis Breathing dysregulation Single ventricle Interrupted aortic arch Right ventricular failure Crossed fused renal ectopia Anorectal anomaly Common atrium Vertebral clefting Epibulbar dermoid Abnormality of the middle ear Abnormal nasal morphology Recurrent aspiration pneumonia Liver abscess Prominent fingertip pads Biliary atresia Bronchomalacia Overriding aorta Diaphragmatic eventration Ureteropelvic junction obstruction Pulmonary valve atresia Recurrent ear infections Anterior plagiocephaly Trichorrhexis nodosa Broad philtrum Small face Sclerosing cholangitis Prominent eyelashes Optic nerve coloboma Easy fatigability Arrhythmia Recurrent respiratory infections Broad forehead Cyanosis Muscle weakness Congenital mitral stenosis Ventricular hypertrophy Hemiparesis Anoperineal fistula Nocturnal lagophthalmos Sinusitis Vertical orbital dystopia Premature thelarche Clubbing Polycythemia Underdeveloped supraorbital ridges Poor appetite Pilonidal sinus Hyperventilation Double outlet right ventricle Truncus arteriosus Short nasal septum Eversion of lateral third of lower eyelids Right ventricular hypertrophy Pulmonary artery atresia Abnormal form of the vertebral bodies Mitral stenosis Everted lower lip vermilion Growth hormone deficiency Abnormal vertebral morphology Cafe-au-lait spot Long eyelashes Renal dysplasia Recurrent otitis media Small nail Congenital diaphragmatic hernia Otitis media Frontal bossing Syndactyly Telecanthus Craniosynostosis Congenital hip dislocation Toe syndactyly Decreased antibody level in blood Dental malocclusion Intestinal malrotation Hypodontia Highly arched eyebrow Cirrhosis Abnormality of cardiovascular system morphology Astigmatism Anal atresia Malabsorption Autoimmunity Absence of the pulmonary valve Horseshoe kidney Retinal coloboma Autoimmune hemolytic anemia Short 5th finger Depressed nasal tip Short columella Patellar dislocation Vitiligo Hashimoto thyroiditis Anal stenosis Autoimmune thrombocytopenia IgA deficiency Thyroiditis Congenital hypothyroidism Cerebellar vermis atrophy Abnormal dermatoglyphics Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Bundle branch block Bilateral cryptorchidism Cupped ear Precocious puberty Tetralogy of Fallot with absent pulmonary valve Brittle hair Failure to thrive in infancy Cholangitis Ivory epiphyses of the toes Sparse scalp hair Scarring Chronic diarrhea Large fontanelles Abnormality of the face Recurrent urinary tract infections Cerebral calcification Convex nasal ridge Hip dysplasia High, narrow palate Bruising susceptibility Long face Joint hyperflexibility Gastroesophageal reflux Narrow face Pectus excavatum Long philtrum Intellectual disability, severe Dysphagia Skeletal muscle atrophy Valgus hand deformity Aplasia/Hypoplasia of metatarsal bones Acromesomelia Short digit Aplasia/Hypoplasia involving the metacarpal bones Pes valgus Aplasia/Hypoplasia of the patella Dental crowding Coxa vara Short 1st metacarpal Abnormality of the skull Bladder diverticulum Abnormality of fibula morphology Avascular necrosis of the capital femoral epiphysis Prominent superficial veins Broad ribs Generalized joint laxity Abnormality of the wrist Premature skin wrinkling Hypothermia Esophagitis Down-sloping shoulders Atypical scarring of skin Hiatus hernia Osteolysis Carpal synostosis Soft skin Exostoses Short clavicles Dislocated radial head Orthostatic hypotension Limited elbow extension Delayed cranial suture closure Bilateral ptosis Redundant skin Hyperextensible skin Coarse hair Constrictive median neuropathy Dysostosis multiplex Femoral hernia Emotional lability Nystagmus Exercise-induced myoglobinuria Exercise-induced muscle cramps Recurrent myoglobinuria Increased muscle fatiguability Decreased mean corpuscular volume Myoglobinuria Progressive encephalopathy Reticulocytosis Rhabdomyolysis Aphasia Hemiplegia Hyperreflexia Spastic tetraparesis Exercise intolerance Tetraparesis Migraine Muscle cramps Muscular dystrophy Mental deterioration Myalgia Encephalopathy Myopathy Fatigue Delayed speech and language development Cataract Absent speech Short tibia Macroglossia Fibular hypoplasia Hallux valgus Metatarsus adductus Hypoplasia of the ulna Short middle phalanx of finger Hypoplasia of the radius Recurrent upper respiratory tract infections Disproportionate short-limb short stature Aortic regurgitation Hydrops fetalis Osteoarthritis Abnormality of the ribs Short foot Spastic paraplegia Paresthesia Talipes Edema Hypoglycorrhachia Zonular cataract Hemoglobinuria Stomatocytosis Conjugated hyperbilirubinemia Broad neck Hyperkalemia Inability to walk Paraplegia Venous insufficiency Thick hair Renal hypoplasia Reduced pancreatic beta cells Hypoplasia of the corpus callosum Short neck Anteverted nares Fever Cognitive impairment Low-set ears Sensorineural hearing impairment Irregular tarsal ossification Intracerebral periventricular calcifications Ivory epiphyses of the phalanges of the hand Abnormality of pancreas morphology Irregular carpal bones Cerebral atrophy Bilateral coxa valga Transient neonatal diabetes mellitus Shortening of all middle phalanges of the fingers Chronic hepatic failure Atlantoaxial dislocation Decreased hip abduction Hip subluxation Pancreatic hypoplasia Flattened epiphysis Narrow iliac wings Thoracolumbar kyphosis Carpal bone hypoplasia Malar flattening Alopecia Small epiphyses Small for gestational age Status epilepticus Hypsarrhythmia Oligohydramnios Sloping forehead Short metacarpal Premature birth Bifid uvula Renal cyst Thick vermilion border Bulbous nose Micromelia Hypotrichosis Corneal opacity Cerebellar hypoplasia Microtia Apnea Muscular hypotonia of the trunk Abnormality of the nervous system Rigidity Skeletal dysplasia Retrognathia Hyperkeratosis Respiratory failure Glaucoma Hypogonadism Agenesis of corpus callosum Enlarged thorax Thin bony cortex Gastroparesis Ureteral obstruction Acidosis Weight loss Brachycephaly Diabetes mellitus Upslanted palpebral fissure Gait disturbance Motor delay Hypertelorism Humerus varus Carotid artery tortuosity Aortic rupture Abnormality of esophagus physiology Persistent open anterior fontanelle Hyperlordosis Limited knee extension Bladder carcinoma Pelvic bone exostoses Rudimentary to absent tibiae Aplasia/hypoplasia of the humerus Capitate-hamate fusion Broad clavicles Long neck Synostosis of joints Absent tibia Abnormality of the sense of smell Keloids Elevated hepatic transaminase Irritability Multiple epiphyseal dysplasia Short thorax Acute hepatic failure Barrel-shaped chest Renal tubular dysfunction Ketoacidosis Irregular vertebral endplates Insulin-resistant diabetes mellitus Exocrine pancreatic insufficiency Hypoplasia of the odontoid process Hyperuricemia Glycosuria Steatorrhea Neurodevelopmental delay Abnormality of neuronal migration Joint stiffness Spondyloepiphyseal dysplasia Hyperglycemia Epiphyseal dysplasia Type I diabetes mellitus Abnormality of epiphysis morphology Dehydration Triangular face Recurrent fractures Coma Neutropenia Nephropathy Hypermetropia Lateral clavicle hook



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