Brachydactyly, and Umbilical hernia

Diseases related with Brachydactyly and Umbilical hernia

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


Top matches:

Medium 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

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

Medium 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

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Other less relevant matches:

Medium match RIN2 SYNDROME


RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

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 HYPERTELORISM, TEEBI TYPE


Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms).

HYPERTELORISM, TEEBI TYPE Is also known as brachycephalofrontonasal dysplasia|craniofrontonasal dysplasia, teebi type|teebi syndrome|teebi hypertelorism syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERTELORISM, TEEBI TYPE

Medium match CARPENTER SYNDROME


Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.

CARPENTER SYNDROME Is also known as acrocephalopolysyndactyly type 2|acps2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARPENTER 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 CATEL-MANZKE SYNDROME


Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.

CATEL-MANZKE SYNDROME Is also known as index finger anomaly-pierre robin syndrome|index finger anomaly with pierre robin syndrome|pierre robin syndrome-hyperphalangy-clinodactyly syndrome|micrognathia digital syndrome|palatodigital syndrome, catel-manzke type|pierre robin syndrome with hyperph

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATEL-MANZKE SYNDROME

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

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

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

Common Symptoms - More than 50% cases


Retrognathia

Uncommon Symptoms - Between 30% and 50% cases


Pectus carinatum Short neck Proptosis Inguinal hernia Pectus excavatum Long philtrum Intellectual disability Abnormality of the skeletal system Frontal bossing Scoliosis Wide nasal bridge Abnormal facial shape Patent ductus arteriosus Joint laxity Low-set ears Atrial septal defect High palate Hearing impairment Ventricular septal defect Camptodactyly Talipes equinovarus Micrognathia Depressed nasal bridge Downslanted palpebral fissures Anteverted nares Clinodactyly Small nail Syndactyly Seizures Sensorineural hearing impairment Growth delay Macrocephaly Cleft palate Short nose Midface retrusion Highly arched eyebrow Gingival overgrowth Polydactyly Severe short stature Clinodactyly of the 5th finger Upslanted palpebral fissure Craniosynostosis Finger syndactyly Postaxial polydactyly

Rare Symptoms - Less than 30% cases


Joint hypermobility Pes planus Everted lower lip vermilion Hirsutism Coarse facial features Osteoporosis Alopecia Dilatation Short chin Long palpebral fissure Bifid uvula Macroglossia Thin vermilion border Decreased body weight Obesity Hydrocephalus Intrauterine growth retardation Single transverse palmar crease Heart murmur Sparse and thin eyebrow Narrow palate Bilateral cryptorchidism Shawl scrotum Finger clinodactyly Short toe Wide nose Epicanthus Abnormality of cardiovascular system morphology Brachycephaly Prominent forehead Hypospadias Ptosis Strabismus Coxa vara Cutis laxa Dextrocardia Short humerus Short middle phalanx of finger Postaxial hand polydactyly Posteriorly rotated ears Talipes Genu valgum Camptodactyly of finger Edema Flexion contracture Blue sclerae Aortic aneurysm Failure to thrive Malar flattening Limb undergrowth Oligodontia Dental crowding Chronic otitis media Broad thumb Hip dysplasia Overgrowth Severe global developmental delay Short distal phalanx of finger Wide mouth Cleft lip Cutis marmorata Short phalanx of finger Abnormal cardiac septum morphology Thin upper lip vermilion Ventricular hypertrophy Narrow naris Micropenis Coarctation of aorta Glossoptosis Polysplenia Adducted thumb Abnormality of the skull Turricephaly Preaxial foot polydactyly Hypoplastic nipples Cutaneous finger syndactyly Cystic hygroma Ectopia lentis Cloverleaf skull Abnormality of epiphysis morphology Hip dislocation Cleft upper lip Short philtrum Iris coloboma Full cheeks Hypertrichosis Wide anterior fontanel Oxycephaly Joint dislocation Abnormal reproductive system morphology Narrow palpebral fissure Aplasia of the middle phalanx of the hand Diaphragmatic eventration Abnormal cornea morphology Transposition of the great arteries Short hallux External genital hypoplasia Knee dislocation Natal tooth Ulnar deviation of the 2nd finger Sprengel anomaly Radial deviation of the 2nd finger Oral synechia Lipoma Widow's peak Abnormality of the helix Advanced eruption of teeth Dimple chin Prominent antihelix Broad eyebrow Female pseudohermaphroditism Metatarsus valgus Supernumerary nipple Kyphoscoliosis Overriding aorta Ankyloglossia Protruding ear Toe syndactyly Webbed neck Wide intermamillary distance Situs inversus totalis Thin eyebrow Coloboma Preaxial polydactyly Trigonocephaly Pierre-Robin sequence Joint hyperflexibility Downturned corners of mouth Joint stiffness Ascending aortic dissection Arterial tortuosity Dural ectasia Protrusio acetabuli Pes cavus Mild myopia Myopia Pain Thoracic aortic aneurysm Onychogryposis of fingernail Naevus flammeus of the eyelid Euryblepharon Abnormality of the penis Ridged fingernail Absent distal phalanges Broad forehead Ascending tubular aorta aneurysm Hypoplastic labia minora Striae distensae Bicuspid aortic valve Joint contracture of the hand Exotropia Mitral valve prolapse Myopathic facies Disproportionate tall stature Dilatation of the cerebral artery Dermal translucency Aortic dissection Chest pain High anterior hairline Recurrent fractures Arachnodactyly Dolichocephaly Spondylolisthesis Curly eyelashes Pulmonary artery aneurysm Micromelia Long eyelashes Open bite Elbow dislocation Postnatal growth retardation Sacral dimple Coxa valga Hemivertebrae Abnormal form of the vertebral bodies Abnormality of the pinna Hypoplasia of penis Specific learning disability Hypodontia High, narrow palate Arnold-Chiari malformation Short palm Increased number of teeth Capillary hemangioma Descending thoracic aorta aneurysm Generalized arterial tortuosity Spontaneous pneumothorax Abnormality of the gingiva Bicuspid pulmonary valve Clitoral hypoplasia Median cleft lip and palate Epispadias Fingernail dysplasia Anodontia Ventriculomegaly Respiratory distress Femoral hernia Avascular necrosis of the capital femoral epiphysis Bifid tongue Hypoplastic labia majora Low-set, posteriorly rotated ears Broad palm Hypoplasia of the radius High hypermetropia Prominent superficial veins Portal vein thrombosis Hypersplenism Cavernous hemangioma Aplasia cutis congenita of scalp Right ventricular failure Esophageal varix Calcinosis Cutis marmorata telangiectatica congenita Dystrophic toenail Right ventricular hypertrophy Progressive proximal muscle weakness Oligodactyly Aplasia cutis congenita Spastic diplegia Prominent scalp veins Chronic hepatic failure Portal hypertension Delayed myelination Severe failure to thrive Protruding tongue Failure to thrive in infancy Lissencephaly Left ventricular hypertrophy Dandy-Walker malformation Hypertrophic cardiomyopathy Calcinosis cutis Absent speech Hypertonia Cardiomyopathy Hypoplasia of the corpus callosum Microcephaly Right atrial enlargement Abnormality of the coagulation cascade Patent foramen ovale Skull asymmetry Mesomelia Narrow nasal tip Mesomelic short stature Triangular mouth Generalized osteosclerosis Depressed nasal tip Thickened calvaria Increased bone mineral density Muscle weakness Otitis media Dental malocclusion Conductive hearing impairment Skeletal dysplasia High forehead Abnormality of the dentition Otitis media with effusion Motor delay Ischemic stroke Stroke Hyperammonemia Pulmonary arterial hypertension Ascites Hepatic failure Pulmonic stenosis Abnormality of the cerebral white matter Attention deficit hyperactivity disorder Hypertension Proximal muscle weakness Hyperactivity Abnormal heart morphology Encephalopathy Splenomegaly Congestive heart failure Myopathy Periorbital fullness Muscular hypotonia Ectopic kidney Dysostosis multiplex Aplasia/Hypoplasia involving the metacarpal bones Pes valgus Aplasia/Hypoplasia of the patella Constrictive median neuropathy Short 1st metacarpal Short femur Short tibia Acromesomelia Fibular hypoplasia Prolonged neonatal jaundice Hallux valgus Metatarsus adductus Hypoplasia of the ulna Recurrent upper respiratory tract infections Short digit Aplasia/Hypoplasia of metatarsal bones Aortic regurgitation Round face Preauricular pit Deep philtrum Atrioventricular block Omphalocele Congenital diaphragmatic hernia Tetralogy of Fallot Broad nasal tip Valgus hand deformity Thick eyebrow Oral cleft Hypermetropia Prominent nasal bridge Hydronephrosis Arrhythmia Generalized hypotonia Disproportionate short-limb short stature Hydrops fetalis Cognitive impairment Thick lower lip vermilion Increased susceptibility to fractures Redundant skin Hyperextensible skin Hypergonadotropic hypogonadism Bronchiectasis Sparse scalp hair High myopia High pitched voice Narrow forehead Thick vermilion border Bruising susceptibility Ichthyosis Sparse hair Hypogonadism Premature ovarian insufficiency Prolonged bleeding time Osteoarthritis Infra-orbital fold Abnormality of the ribs Short foot Paresthesia Hepatosplenomegaly Jaundice Kyphosis Upper eyelid edema Abnormality of the sternum Abnormal lip morphology Irregular dentition Urethral stenosis Eclabion Generalized osteoporosis Abnormality of the vasculature Palpebral edema Hyperphalangy of the 2nd finger



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