Brachydactyly, and Hernia

Diseases related with Brachydactyly and Hernia

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


Top matches:

Low match TIBIAL APLASIA-ECTRODACTYLY SYNDROME


Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.

TIBIAL APLASIA-ECTRODACTYLY SYNDROME Is also known as split-hand/foot malformation associated with aplasia of long bones|tibial hemimelia-ectrodactyly syndrome|tibial hemimelia with split hand/foot malformation|shfm associated with aplasia of long bones|tibial aplasia with split-hand/split-foot deformity|cle

Related symptoms:

  • Brachydactyly
  • Talipes equinovarus
  • Syndactyly
  • Camptodactyly
  • Finger syndactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TIBIAL APLASIA-ECTRODACTYLY SYNDROME

Low 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

Low match HOLOPROSENCEPHALY 7; HPE7


Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Mendelian

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

Learn more

Other less relevant matches:

Low 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

Low match BOOMERANG DYSPLASIA


Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • Brachydactyly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BOOMERANG DYSPLASIA

Low match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2


Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

Low 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

Low match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Low match INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME


Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME Is also known as mrd37|mental retardation, autosomal dominant 37

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME

Low match SPONDYLOCARPOTARSAL SYNOSTOSIS


Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.

SPONDYLOCARPOTARSAL SYNOSTOSIS Is also known as synspondylism, congenital|synspondylism|vertebral fusion with carpal coalition|scoliosis, congenital, with unilateral unsegmented bar|spondylocarpotarsal syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOCARPOTARSAL SYNOSTOSIS

Top 5 symptoms//phenotypes associated to Brachydactyly and Hernia

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Thin upper lip vermilion Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Severe short stature Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Global developmental delay Seizures Sensorineural hearing impairment Abnormal facial shape Midface retrusion Inguinal hernia Talipes equinovarus Short nose Umbilical hernia Anteverted nares Cleft lip Cryptorchidism Macrocephaly Short neck Cleft palate Microcephaly Omphalocele Intellectual disability Limb undergrowth Myopia

Rare Symptoms - Less than 30% cases


High palate Increased bone mineral density Hydrocephalus Small nail Ventricular hypertrophy Syndactyly Scoliosis Cutis marmorata Hypoplasia of the corpus callosum Delayed myelination Micromelia Hyperlordosis Pes planus Camptodactyly Finger syndactyly Disproportionate short stature Broad nasal tip Hypoplasia of the odontoid process Micrognathia Broad face Depressed nasal tip Joint laxity Dental malocclusion Iris coloboma Frontal bossing Short ribs Clinodactyly Wide mouth Hyperactivity Growth delay Cataract Abnormality of femur morphology Hypertension Respiratory distress Severe global developmental delay Mesomelia Ventricular septal defect Otitis media Narrow chest Long philtrum Oral cleft Depressed nasal bridge Abnormal heart morphology Prominent scalp veins Cutis marmorata telangiectatica congenita Hypertrophic cardiomyopathy Chronic hepatic failure Calcinosis cutis Right atrial enlargement Failure to thrive Intrauterine growth retardation Muscle weakness Coarse facial features Encephalopathy Absent speech Splenomegaly Retrognathia Motor delay Cardiomyopathy Congestive heart failure Portal vein thrombosis Hypertonia Patent ductus arteriosus Obesity Myopathy Aplasia cutis congenita of scalp Hypersplenism Spastic diplegia Pulmonary arterial hypertension Hip dysplasia Ascites Hepatic failure Hyperammonemia Ischemic stroke Patent foramen ovale Portal hypertension Pulmonic stenosis Abnormality of the cerebral white matter Stroke Abnormality of the coagulation cascade Aplasia cutis congenita Proximal muscle weakness Oligodactyly Progressive proximal muscle weakness Right ventricular hypertrophy Dystrophic toenail Calcinosis Attention deficit hyperactivity disorder Prominent superficial veins Esophageal varix Right ventricular failure Coarctation of aorta Cavernous hemangioma Abnormal cardiac septum morphology Thin vermilion border Cupped ear Macroglossia Clinodactyly of the 5th finger Hypoplasia of dental enamel Recurrent otitis media Abnormality of the ribs Round face Renal cyst Abnormality of the kidney Delayed skeletal maturation Abnormal vertebral morphology Hypoglycemic seizures Facial hypotonia Abnormality of visual evoked potentials Self-injurious behavior Focal impaired awareness seizure Abnormal electroretinogram Cone/cone-rod dystrophy Abnormality of retinal pigmentation Preauricular skin tag Pointed chin Platybasia Short nasal septum Bowed humerus Cervical spine instability Capitate-hamate fusion Block vertebrae Basilar impression Delayed ossification of carpal bones Abnormality of pelvic girdle bone morphology Large forehead Disproportionate short-trunk short stature Carpal synostosis Tarsal synostosis Mixed hearing impairment Restrictive ventilatory defect Epiphyseal dysplasia Abnormality of the outer ear Cerebral visual impairment Bifid uvula Narrow nasal tip Optic atrophy Feeding difficulties Low-set ears Strabismus Generalized hypotonia Skull asymmetry Periorbital fullness Behavioral abnormality Severe failure to thrive Protruding tongue Failure to thrive in infancy Lissencephaly Short chin Left ventricular hypertrophy Dandy-Walker malformation Blindness Cerebral atrophy Open mouth Coloboma Congenital diaphragmatic hernia Bilateral sensorineural hearing impairment Focal-onset seizure Downturned corners of mouth Astigmatism Hypermetropia Short philtrum Gastroesophageal reflux Abnormality of cardiovascular system morphology Mandibular prognathia Autism Narrow mouth Brachycephaly Posteriorly rotated ears Rod-cone dystrophy Constipation Otitis media with effusion Abnormality of the dentition Mesomelic short stature Median cleft lip Limitation of joint mobility Microphthalmia Agenesis of corpus callosum Upslanted palpebral fissure Macrotia Protruding ear Broad forehead Smooth philtrum Highly arched eyebrow Prominent nose Hypotelorism Holoprosencephaly Flat occiput Partial agenesis of the corpus callosum Bilateral cleft lip Postaxial hand polydactyly Alobar holoprosencephaly Gait disturbance Abnormality of the foot Flat nasal alae Fusion of the left and right thalami Absent nasal septal cartilage Hypoplasia of the premaxilla Semilobar holoprosencephaly Bilateral cleft lip and palate Parietal bossing Midline defect of the nose Single median maxillary incisor Median cleft lip and palate Bilateral microphthalmos Panhypopituitarism Epicanthus Split hand Osteopenia Abnormality of fibula morphology Rudimentary to absent tibiae Hand monodactyly Aplasia/Hypoplasia of the tibia Popliteal pterygium Absent tibia Aplasia/Hypoplasia of the ulna Patellar aplasia Aplasia of the 3rd finger Short femur Short hallux Split foot Fibular hypoplasia Ectrodactyly Femoral bowing Absent forearm Respiratory insufficiency Chronic tubulointerstitial nephritis Rhizomelia Short iliac bones Pes valgus Thoracic dysplasia Elevated serum creatinine Glomerulonephritis Metaphyseal widening Renal hypoplasia Polydactyly Full cheeks Short foot Stage 5 chronic kidney disease Respiratory tract infection Proteinuria Overfolded helix Kyphosis Pectus carinatum Triangular mouth Preaxial hand polydactyly Aplasia/Hypoplasia of the abdominal wall musculature Coronal cleft vertebrae Abnormality of the humerus Fibular aplasia Abnormality of the radius Abnormal bone ossification Abnormally ossified vertebrae Aplasia/Hypoplasia of the fibula Severe short-limb dwarfism Hypoplastic iliac body Hypoplastic nasal septum Poorly ossified vertebrae Downslanted palpebral fissures Abnormality of the skeletal system Micropenis Abnormality of the ulna Short phalanx of finger Narrow naris Generalized osteosclerosis Thickened calvaria Chronic otitis media Oligodontia Gingival overgrowth Dental crowding Proptosis Broad thumb Overgrowth Short distal phalanx of finger Conductive hearing impairment Skeletal dysplasia High forehead Abnormality of tibia morphology Aplasia/Hypoplasia of the lungs Platyspondyly Hemangioma Short femoral neck Spondyloepiphyseal dysplasia Metaphyseal irregularity Abnormality of the urinary system Genu varum Short long bone Coxa vara Abnormality of the sternum Abnormality of epiphysis morphology Abnormality of the metaphysis Osteoarthritis Retinal detachment Flat face Genu valgum Short thorax Protuberant abdomen Absent radius Metaphyseal dappling Abnormality of the metacarpal bones Hydrops fetalis Underdeveloped nasal alae Growth hormone deficiency Polyhydramnios Alopecia Club-shaped proximal femur Delayed epiphyseal ossification C1-C2 subluxation Delayed pubic bone ossification Narrow greater sacrosciatic notches Hypoplastic pubic bone Anterior rib cupping Spondyloepimetaphyseal dysplasia C2-C3 subluxation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Short distal phalanx of finger, related diseases and genetic alterations Wide nasal bridge and Unsteady gait, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more