Brachydactyly, and Inguinal hernia

Diseases related with Brachydactyly and Inguinal hernia

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


Top matches:

Medium match SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5


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 ).

SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 Is also known as atd5|asphyxiating thoracic dystrophy 5

Related symptoms:

  • Growth delay
  • Cataract
  • Hypertension
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE


Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE Is also known as spondylometaphyseal dysplasia|semd, strudwick type|smed, type i|spondylometaepiphyseal dysplasia congenita, strudwick type|semdc|smd|smed, strudwick type|strudwick syndrome|dappled metaphysis syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE

Medium match ADAMS-OLIVER SYNDROME 5; AOS5


Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

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Other less relevant matches:

Medium match OSTEOGLOSPHONIC DYSPLASIA


Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

OSTEOGLOSPHONIC DYSPLASIA Is also known as osteoglophonic dwarfism

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OSTEOGLOSPHONIC DYSPLASIA

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

Medium match CRANIOECTODERMAL DYSPLASIA 2; CED2


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

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Medium match SHORT SYNDROME


SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT SYNDROME

Medium match AUTOSOMAL DOMINANT ROBINOW SYNDROME


Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

Medium 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

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

Top 5 symptoms//phenotypes associated to Brachydactyly and Inguinal hernia

Symptoms // Phenotype % cases
Hernia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Limb undergrowth Frontal bossing Severe short stature Myopia Wide nasal bridge Umbilical hernia Hearing impairment Polydactyly Midface retrusion Pectus carinatum Syndactyly Low-set ears High palate Cryptorchidism Abnormal heart morphology Abnormal cardiac septum morphology Growth delay Delayed speech and language development Depressed nasal bridge Anteverted nares Short neck Malar flattening Hypospadias Craniosynostosis Short palm Abnormality of the skeletal system Epicanthus Clinodactyly Retrognathia Joint laxity Dolichocephaly Abnormal facial shape Long philtrum Pectus excavatum Respiratory distress Hypertension Cleft palate Talipes equinovarus Short foot Rhizomelia

Rare Symptoms - Less than 30% cases


Platyspondyly Blue sclerae Cloverleaf skull Disproportionate short-limb short stature Microcephaly Short phalanx of finger Abnormal form of the vertebral bodies Protruding ear Mandibular prognathia Full cheeks Delayed skeletal maturation Depressivity Stage 5 chronic kidney disease Short ribs Short nose Downslanted palpebral fissures Pes valgus Failure to thrive Osteoporosis Camptodactyly Proptosis Postaxial polydactyly Narrow chest Hypodontia Intrauterine growth retardation Macrocephaly Alopecia High anterior hairline Prominent forehead Hip dislocation Joint hypermobility Downturned corners of mouth Genu valgum Microdontia Smooth philtrum Patent foramen ovale Telecanthus Thin upper lip vermilion Polyhydramnios Upslanted palpebral fissure Rod-cone dystrophy Patent ductus arteriosus Proteinuria Cataract Abnormality of the dentition Hydrops fetalis Postaxial hand polydactyly Dental crowding Plagiocephaly Splenomegaly Micromelia Spondyloepimetaphyseal dysplasia Kyphosis Osteoarthritis Pes planus Coxa vara Hip dysplasia Seizures Spondyloepiphyseal dysplasia Prominent supraorbital ridges Glucose intolerance Hyperglycemia Radial deviation of finger Lipodystrophy Short chin Opacification of the corneal stroma Abnormality of dental enamel Reduced subcutaneous adipose tissue Nephrocalcinosis Congenital hip dislocation Absent speech Increased body weight Cerebellar hypoplasia Congenital glaucoma Myopathic facies Lipoatrophy Excessive wrinkled skin Rieger anomaly Anemia Abnormality of the mandible Behavioral abnormality Narrow naris Recurrent infections Abnormal anterior chamber morphology Dimple chin Abnormality of the immune system Abnormal pupil morphology Premature skin wrinkling Increased intraocular pressure Hypoplasia of the iris Posterior embryotoxon Insulin-resistant diabetes mellitus Poor appetite Megalocornea Insulin resistance Gait ataxia Macrotia Joint hyperflexibility Hypotrichosis High myopia Neurological speech impairment Corneal opacity Small for gestational age Deeply set eye Weight loss Delayed eruption of teeth Glaucoma Diabetes mellitus Progressive microcephaly Microretrognathia Cutaneous syndactyly Mild microcephaly Sensorineural hearing impairment Decreased testicular size Microcornea Narrow mouth Thin skin Hypothyroidism Birth length less than 3rd percentile Gastroesophageal reflux Decreased body weight Neonatal hypotonia Abnormality of the face Hypermetropia Bilateral sensorineural hearing impairment Febrile seizures Abnormality of the skin Underdeveloped nasal alae Toe syndactyly Dental malocclusion Triangular face Single transverse palmar crease Tapered finger Enlarged epiphyses Strabismus Hypoplastic facial bones Spondylolisthesis Onychogryposis of fingernail Naevus flammeus of the eyelid Euryblepharon Abnormality of the penis Ridged fingernail Aortic dissection Curly eyelashes Hypoplastic labia minora Hydrocephalus Abnormality of the gingiva Dermal translucency Clitoral hypoplasia Ascending tubular aorta aneurysm Median cleft lip and palate Epispadias Fingernail dysplasia Pain Atrial septal defect Arterial tortuosity Mitral valve prolapse Ectopia lentis Arnold-Chiari malformation Bicuspid aortic valve Disproportionate tall stature Narrow palate Joint contracture of the hand Exotropia Chest pain Dilatation Bifid uvula Recurrent fractures Arachnodactyly Broad forehead Striae distensae Dilatation of the cerebral artery Pes cavus Thoracic aortic aneurysm Femoral hernia Abnormality of the zygomatic bone Short philtrum Long eyelashes Bicuspid pulmonary valve Hypoplasia of penis Specific learning disability High, narrow palate Wide nose Finger syndactyly Camptodactyly of finger Hemivertebrae Generalized arterial tortuosity Posteriorly rotated ears Clinodactyly of the 5th finger Generalized hypotonia Ptosis Ataxia Aortic aneurysm Gingival overgrowth Coxa valga Dural ectasia Anodontia Protrusio acetabuli Mild myopia Ascending aortic dissection Avascular necrosis of the capital femoral epiphysis Bifid tongue Hypoplastic labia majora Absent distal phalanges Pulmonary artery aneurysm Sacral dimple Descending thoracic aorta aneurysm Spontaneous pneumothorax Capillary hemangioma Increased number of teeth Long palpebral fissure Open bite Elbow dislocation Oligodontia Nystagmus Narrow forehead Fused teeth Progressive proximal muscle weakness Aplasia cutis congenita of scalp Right ventricular failure Esophageal varix Prominent superficial veins Calcinosis Dystrophic toenail Right ventricular hypertrophy Oligodactyly Hypersplenism Aplasia cutis congenita Spastic diplegia Abnormality of the coagulation cascade Cutis marmorata Portal hypertension Ischemic stroke Hyperammonemia Small nail Cavernous hemangioma Portal vein thrombosis Pulmonary arterial hypertension Glomerulonephritis Short metatarsal Reduced number of teeth Bowing of the long bones Choanal atresia Short metacarpal Oral cleft Renal hypoplasia Metaphyseal widening Elevated serum creatinine Prominent scalp veins Thoracic dysplasia Short iliac bones Chronic tubulointerstitial nephritis Gait disturbance Right atrial enlargement Calcinosis cutis Chronic hepatic failure Cutis marmorata telangiectatica congenita Ventricular hypertrophy Coarctation of aorta Failure to thrive in infancy Metaphyseal irregularity Anterior rib cupping Delayed epiphyseal ossification Hypoplasia of the odontoid process Protuberant abdomen Disproportionate short stature Abnormality of the sternum Short thorax Short femoral neck Abnormality of the urinary system Narrow greater sacrosciatic notches Genu varum Short long bone Hemangioma Increased bone mineral density Abnormality of epiphysis morphology Abnormality of the metaphysis Retinal detachment Flat face Hypoplastic pubic bone Delayed pubic bone ossification Ascites Osteopenia Hepatic failure Pulmonic stenosis Abnormality of the cerebral white matter Severe global developmental delay Stroke Attention deficit hyperactivity disorder Proximal muscle weakness Hyperactivity Encephalopathy C1-C2 subluxation Congestive heart failure Myopathy Ventricular septal defect Motor delay Muscle weakness Hyperlordosis Metaphyseal dappling Club-shaped proximal femur Increased susceptibility to fractures Hypoplastic toenails Metopic synostosis Elevated hepatic transaminase Ectodermal dysplasia Renal cyst Everted lower lip vermilion Respiratory insufficiency Blepharophimosis Sparse hair Abnormality of the pinna High forehead Left ventricular hypertrophy Acidosis Renal insufficiency Cleft lip Hepatomegaly Respiratory tract infection Valgus hand deformity Aplasia/Hypoplasia of metatarsal bones Acromesomelia Cholestasis Hepatic fibrosis Aplasia/Hypoplasia involving the metacarpal bones Cystic hygroma Horizontal ribs Portal fibrosis Bile duct proliferation Broad philtrum Cholangitis Biliary cirrhosis Polysplenia Cutaneous finger syndactyly Nephronophthisis Hyperbilirubinemia Mesomelia Sparse eyebrow Preaxial polydactyly Chronic kidney disease Widely spaced teeth Cutis laxa Sparse eyelashes Narrow palpebral fissure Short digit Aplasia/Hypoplasia of the patella Hypophosphatemia Abnormal bone ossification Edema Flexion contracture Multiple unerupted teeth Unerupted tooth Pseudoarthrosis Broad metacarpals Broad metatarsal Broad phalanx Abnormality of the nasopharynx Hepatosplenomegaly Renal phosphate wasting Chordee Nasal obstruction Hypoplastic scapulae Abnormality of the clavicle Broad foot Shallow orbits Broad palm Jaundice Talipes Constrictive median neuropathy Metatarsus adductus Short 1st metacarpal Short femur Dysostosis multiplex Short tibia Fibular hypoplasia Short humerus Prolonged neonatal jaundice Hallux valgus Hypoplasia of the ulna Paresthesia Short middle phalanx of finger Heart murmur Hypoplasia of the radius Recurrent upper respiratory tract infections Aortic regurgitation Abnormality of the ribs Macroglossia Hirsutism Central hypothyroidism



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