Brachydactyly, and Ulcerative colitis

Diseases related with Brachydactyly and Ulcerative colitis

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


Top matches:

Medium match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Medium match FOCAL DERMAL HYPOPLASIA


Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Low match ACROMESOMELIC DYSPLASIA, GREBE TYPE


Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, GREBE TYPE Is also known as fumaric aciduria|chondrodysplasia, grebe type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, GREBE TYPE

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Other less relevant matches:

Low match MARFAN SYNDROME TYPE 1


MARFAN SYNDROME TYPE 1 Is also known as aortic aneurysm, familial thoracic 3|marfan syndrome, type ii, formerly|mfs1|aat3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARFAN SYNDROME TYPE 1

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 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6


Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6 Is also known as gpibd12|glycosylphosphatidylinositol biosynthesis defect 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

Low match INFLAMMATORY BOWEL DISEASE 29; IBD29


Inflammatory bowel disease is a chronic inflammatory condition of the gastrointestinal tract (summary by Mohanan et al., 2018).For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease, including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 (OMIM ).

Related symptoms:

  • Inflammation of the large intestine
  • Colitis
  • Ulcerative colitis


SOURCES: OMIM MENDELIAN

More info about INFLAMMATORY BOWEL DISEASE 29; IBD29

Low match AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6


Related symptoms:

  • Arthritis
  • Systemic lupus erythematosus
  • Rheumatoid arthritis
  • Colitis
  • Ulcerative colitis


SOURCES: OMIM MENDELIAN

More info about AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6

Low match INFLAMMATORY BOWEL DISEASE 13; IBD13


Related symptoms:

  • Inflammation of the large intestine


SOURCES: OMIM MESH MENDELIAN

More info about INFLAMMATORY BOWEL DISEASE 13; IBD13

Top 5 symptoms//phenotypes associated to Brachydactyly and Ulcerative colitis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Colitis Uncommon - Between 30% and 50% cases
Inguinal hernia Uncommon - Between 30% and 50% cases
Inflammation of the large intestine Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the skeletal system Scoliosis Microcephaly High palate Strabismus Polydactyly Abdominal pain Dilatation Pectus excavatum Cleft palate Syndactyly Hydrocephalus Frontal bossing Umbilical hernia Hypertelorism Joint laxity Seizures Neoplasm Generalized hypotonia Micrognathia Abnormal facial shape Hernia

Rare Symptoms - Less than 30% cases


Hydronephrosis Depressed nasal bridge Agenesis of corpus callosum Patent ductus arteriosus Camptodactyly Optic atrophy Clinodactyly Ventricular septal defect Dysphagia Ptosis Scarring Growth delay Abnormality of the sense of smell Down-sloping shoulders Vertebral fusion Abnormality of the pinna Pectus carinatum Abnormal cardiac septum morphology Short clavicles Muscular hypotonia Anteverted nares Polyhydramnios Cholestasis Disproportionate short-limb short stature Hearing impairment Enterocolitis Hiatus hernia Talipes equinovarus Osteoporosis Hip dysplasia Pes planus Dolichocephaly Joint hypermobility Blue sclerae Dental crowding Ectopia lentis Arnold-Chiari malformation Flexion contracture Osteopenia Postaxial hand polydactyly Disproportionate tall stature Gastroesophageal reflux Cerebral calcification Abnormality of the dentition Downslanted palpebral fissures Microphthalmia Short ribs Retrognathia Papule Coloboma Hypotrichosis Arachnodactyly Cleft upper lip Iris coloboma Postaxial polydactyly Spina bifida Sparse hair Proptosis Spina bifida occulta Cleft lip Relative macrocephaly Pain Cataract Cryptorchidism Macrocephaly Exotropia Craniosynostosis Pes cavus Broad forehead Atrial septal defect Prominent nasal tip Malar flattening Thickened helices Large earlobe Recurrent fractures Chronic lung disease Long palpebral fissure Hip contracture Elevated serum creatine phosphokinase Bifid uvula Spondylolisthesis Pulmonary artery aneurysm Absent distal phalanges Ascending aortic dissection Mild myopia Protrusio acetabuli Dural ectasia Elbow flexion contracture Arterial tortuosity Thoracic aortic aneurysm Ascending tubular aorta aneurysm Dermal translucency High anterior hairline Chest pain Knee flexion contracture Aortic dissection Dilatation of the cerebral artery Striae distensae Myopathic facies Aortic aneurysm Bicuspid aortic valve Narrow palate Elevated alkaline phosphatase 2-3 toe syndactyly Mitral valve prolapse Joint contracture of the hand Mitochondrial encephalopathy Myopia Neurological speech impairment Intellectual disability, profound Generalized-onset seizure Aciduria Abdominal distention Metabolic acidosis Short foot Polymicrogyria Hepatic failure Lactic acidosis Micromelia Joint stiffness Shortening of all distal phalanges of the fingers Pallor Skeletal dysplasia Echogenic fetal bowel Acidosis Encephalopathy Cerebral atrophy Respiratory insufficiency EEG with multifocal slow activity Arthritis Systemic lupus erythematosus Rheumatoid arthritis Status epilepticus Bowing of the long bones Open operculum Fibular hypoplasia Aplasia of the middle phalanges of the toes Cutaneous leiomyoma Spontaneous pneumothorax Choroid plexus cyst Aplasia/Hypoplasia involving the metacarpal bones Infantile encephalopathy Psychomotor deterioration Organic aciduria Short tibia Synostosis of carpal bones Polycythemia Short toe Aplasia/Hypoplasia of the thumb Tarsal synostosis Reduced subcutaneous adipose tissue Abnormality of the coagulation cascade Hypoplasia of the brainstem Sarcoma Optic nerve hypoplasia Hyperammonemia Lissencephaly Aminoaciduria Hyperbilirubinemia Descending thoracic aorta aneurysm Kyphosis Bicuspid pulmonary valve Generalized joint laxity Gastroparesis Aplastic clavicle Thick hair Femoral hernia Venous insufficiency Bladder diverticulum Abnormality of fibula morphology Avascular necrosis of the capital femoral epiphysis Prominent superficial veins Broad ribs Abnormality of the wrist Absent tibia Premature skin wrinkling Hypothermia Esophagitis Atypical scarring of skin Abnormality of the skull Carpal synostosis Soft skin Exostoses Acute kidney injury Short humerus Keloids Synostosis of joints Respiratory tract infection Persistent open anterior fontanelle Short neck Hyperactivity Delayed speech and language development Feeding difficulties Humerus varus Carotid artery tortuosity Deeply set eye Aortic rupture Abnormality of esophagus physiology Ureteral obstruction Limited knee extension Long neck Muscular hypotonia of the trunk Bladder carcinoma Pelvic bone exostoses Rudimentary to absent tibiae Aplasia/hypoplasia of the humerus Capitate-hamate fusion Developmental regression Abnormality of the pubic bone Large iliac wings Broad clavicles Dislocated radial head Osteomalacia Generalized arterial tortuosity Platyspondyly Hepatitis Specific learning disability Convex nasal ridge High, narrow palate Bruising susceptibility Short palm Long face Joint hyperflexibility Genu valgum Narrow chest Hip dislocation Abnormality of the face Jaundice Aspiration High forehead Renal insufficiency Long philtrum Vomiting Intellectual disability, mild Diarrhea Intellectual disability, severe Skeletal muscle atrophy Recurrent urinary tract infections Large fontanelles Orthostatic hypotension Poor suck Limited elbow extension Wide mouth Congenital cataract Delayed cranial suture closure Rickets Poor speech Bilateral ptosis Bulbous nose Redundant skin Limb undergrowth Narrow forehead Chronic diarrhea Hyperextensible skin Coarse hair Cutis laxa Abnormal lung morphology Cerebral visual impairment Osteolysis Coxa vara Wormian bones Coxa valga Narrow face Ventriculomegaly Total anomalous pulmonary venous return Visual impairment Bifid ribs Nystagmus Short stature Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Curved fingers Cognitive impairment Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Parietal bossing Vertebral wedging Fibroma Low-set ears Intrauterine growth retardation Cervical ribs Finger syndactyly Intestinal malrotation Broad nasal tip Hypodontia Delayed eruption of teeth Abnormality of skin pigmentation Facial asymmetry Abnormality of the foot Toe syndactyly Pruritus Nail dystrophy Corneal opacity Blindness Microtia Cough Camptodactyly of finger Erythema Reduced visual acuity Weight loss Hyperhidrosis Alopecia Abnormal heart morphology Obesity Abnormality of cardiovascular system morphology Hamartomatous polyposis Supernumerary ribs Short metacarpal EEG abnormality Abnormality of the ribs Hypotension Nevus Palmoplantar keratoderma Oral cleft Carious teeth Facial palsy Telecanthus Proteinuria Carcinoma Coarse facial features Hyperpigmentation of the skin Kyphoscoliosis Mandibular prognathia Glaucoma Brachycephaly Visual loss Wide nasal bridge Dysarthria Epicanthus Motor delay Spasticity Ataxia Hemiparesis Bradycardia Ectopic calcification Sprengel anomaly Medulloblastoma Astrocytoma Brain neoplasm Broad face Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Skin tags Fragile nails Narrow nose Thoracic scoliosis Muscle stiffness Abnormality of the sternum Agenesis of permanent teeth Long fingers Basal cell carcinoma Milia Melanocytic nevus Nephritis Glomerulonephritis Neoplasm of the skin Hemivertebrae Hypogonadotrophic hypogonadism Ectodermal dysplasia Dental malocclusion Failure to thrive Cholangitis Inspiratory stridor Papilloma Abnormality of hair texture Abnormal cornea morphology Hand oligodactyly Ureteral duplication Bifid nose Skin nodule Anomalous pulmonary venous return Hypoplasia of teeth Labial hypoplasia Absent toenail Abnormality of the larynx Verrucae Lower limb asymmetry Hypoplastic pelvis Duodenal atresia Acute hepatic failure Diastasis recti Truncus arteriosus Myelomeningocele Stenosis of the external auditory canal Aplasia/Hypoplasia of the lungs Clitoral hypoplasia Rough bone trabeculation Hypoplasia of the iris Nonproductive cough Midclavicular aplasia Midclavicular hypoplasia Giant cell tumor of bone Apocrine hidrocystoma Cholesteatoma Linear hyperpigmentation Ectopia cordis Bifid ureter Abnormal adipose tissue morphology Abnormality of the pulmonary vasculature Osteopathia striata Abnormality of the middle ear Cleft ala nasi Abnormality of the mediastinum Abnormal palmar dermatoglyphics Caudal appendage Ridged fingernail Absence of the sacrum Patchy alopecia Upper limb asymmetry Reticular hyperpigmentation Absent fingernail Foot oligodactyly Split foot Foot polydactyly Nail dysplasia Short phalanx of finger Oligodontia Renal hypoplasia/aplasia Abnormality of dental enamel Multicystic kidney dysplasia Horseshoe kidney Congenital hip dislocation Pointed chin Increased body weight Abnormality of the nail Hoarse voice Abnormality of epiphysis morphology Reduced number of teeth Telangiectasia Hypoplasia of dental enamel Subcutaneous nodule Omphalocele Thin skin Split hand Renal hypoplasia Interphalangeal joint contracture of finger Congenital diaphragmatic hernia Overgrowth Abnormality of the skin Recurrent skin infections Dermal atrophy Aniridia Mixed hearing impairment Oligodactyly Ectrodactyly Facial cleft Aplasia cutis congenita Hypoplastic nipples Anteriorly placed anus Telangiectasia of the skin Abnormality of digit Aplasia/Hypoplasia of the skin Narrow nasal bridge Macule Short finger Short metatarsal Hypermelanotic macule Supernumerary nipple Open bite Mild short stature Anophthalmia Abnormality of dental morphology Stridor Chorioretinal coloboma Ectropion Hand polydactyly Brittle hair Juvenile rheumatoid arthritis



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