Brachydactyly, and Pectus excavatum

Diseases related with Brachydactyly and Pectus excavatum

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


Top matches:

Medium match OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD


Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum (Shabbir et al., 2018).

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Pain
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD

Medium match TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER


TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

Medium match CHITAYAT SYNDROME; CHYTS


Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about CHITAYAT SYNDROME; CHYTS

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Other less relevant matches:

Medium match ACROCAPITOFEMORAL DYSPLASIA


Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.

Related symptoms:

  • Short stature
  • Scoliosis
  • Brachydactyly
  • Macrocephaly
  • Pectus excavatum


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ACROCAPITOFEMORAL DYSPLASIA

Medium match CRANIOECTODERMAL DYSPLASIA 4; CED4


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:

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

Medium match SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC


Patients with SSFSC have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract (Tan et al., 2017).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC

Medium match OROFACIODIGITAL SYNDROME TYPE 2


Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.

OROFACIODIGITAL SYNDROME TYPE 2 Is also known as oral-facial-digital syndrome, type ii|ofd2|orofaciodigital syndrome ii|oral-facial-digital syndrome type 2|ofds ii|mohr syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 2

Medium match OPSISMODYSPLASIA


Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

Medium match MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME


Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME

Medium match IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA

Top 5 symptoms//phenotypes associated to Brachydactyly and Pectus excavatum

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Limb undergrowth Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Clinodactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the skeletal system Depressed nasal bridge Long philtrum Short distal phalanx of finger Anteverted nares Global developmental delay Delayed skeletal maturation Short palm Narrow chest Micrognathia Syndactyly High palate Cleft palate Hearing impairment Skeletal dysplasia Short nose Seizures Abnormality of digit Intellectual disability Scoliosis

Rare Symptoms - Less than 30% cases


Abnormality of the hand Macrocephaly Recurrent infections Kyphosis Hyperreflexia Micromelia Disproportionate short-limb short stature Severe platyspondyly Tapered finger Platyspondyly Muscular hypotonia Short metacarpal Abnormality of finger Metaphyseal irregularity Motor delay Delayed ossification of carpal bones Relative macrocephaly Broad forehead Thin upper lip vermilion Clinodactyly of the 5th finger Abnormal heart morphology Apnea Broad thumb Downslanted palpebral fissures Synophrys Disproportionate short stature Dental crowding Recurrent pneumonia Full cheeks Craniosynostosis Broad nasal tip Frontal bossing Tachypnea Conductive hearing impairment Thick vermilion border Polydactyly Microcephaly Nystagmus Feeding difficulties Postaxial polydactyly Abnormal facial shape Midface retrusion Recurrent respiratory infections Polyhydramnios Blue sclerae Respiratory tract infection Kyphoscoliosis Pectus carinatum Flat occiput Respiratory insufficiency Edema Metaphyseal cupping Splenomegaly Severe short stature Respiratory failure Flat acetabular roof Joint stiffness Wide mouth Lymphoma Short foot Small hand Prominent supraorbital ridges Delayed epiphyseal ossification Bell-shaped thorax Abnormality of the metaphysis Short neck Abnormality of epiphysis morphology Rhizomelia Protuberant abdomen Wide anterior fontanel Short long bone Hypophosphatemia Large fontanelles Partial duplication of the phalanges of the hallux Hepatomegaly Bifid tongue Broad hallux Bifid uvula Postaxial hand polydactyly Wormian bones Preaxial polydactyly Mild short stature Preaxial hand polydactyly Flared metaphysis Atrioventricular canal defect Natal tooth Median cleft lip Arachnoid cyst Postaxial foot polydactyly Adducted thumb Preaxial foot polydactyly Osteoarthritis Bifid nasal tip Abnormality of the larynx Complete atrioventricular canal defect Porencephalic cyst Accessory oral frenulum Bilateral postaxial polydactyly Lobulated tongue Common atrium Hypoplasia of the epiglottis Tongue nodules Mesoaxial polydactyly Talon cusp Agenesis of central incisor Hypoplastic ischia Renal phosphate wasting Abnormally ossified vertebrae Hypoplastic vertebral bodies Inflammatory abnormality of the skin Mild global developmental delay Obsessive-compulsive trait Hyperacusis Aplasia of the 1st metacarpal Immunodeficiency Coarse facial features Abnormality of the nervous system Muscular hypotonia of the trunk Anal atresia Single transverse palmar crease Decreased antibody level in blood Prominent nose Generalized-onset seizure Progressive microcephaly Absent radius Lymphopenia Coxa valga Eosinophilia Epiphyseal dysplasia Erythroderma Combined immunodeficiency Opisthotonus Neurodevelopmental delay Metaphyseal dysplasia Dislocated radial head Severe combined immunodeficiency Hepatic cysts Hypoplasia of the capital femoral epiphysis Narrow greater sacrosciatic notches Ventricular extrasystoles 2-3 toe syndactyly Vertebral hypoplasia Upslanted palpebral fissure Anterior rib cupping Hypoplastic pubic bone Hypoplasia of the maxilla Squared iliac bones Leukemia Posterior rib cupping Delayed speech and language development Arthralgia Epicanthus Dysphagia Behavioral abnormality Pain Neoplasm Hyperactivity Obsessive-compulsive behavior Gait ataxia Macrotia High forehead Pes planus Aggressive behavior Abnormal cardiac septum morphology Attention deficit hyperactivity disorder Poor speech Facial asymmetry Thick eyebrow Hypodontia Syncope Short phalanx of finger Low anterior hairline Abnormal cerebellum morphology Hydrocephalus Cleft lip Cone-shaped capital femoral epiphysis Short tibia Hypoplastic iliac wing Ovoid vertebral bodies Short femur Flared iliac wings Chorea Short proximal phalanx of finger Cupped ribs Broad nail Cone-shaped metacarpal epiphyses Short proximal phalanx of thumb Enlargement of the distal femoral epiphysis Abnormality of the femoral neck Fibular overgrowth Abnormality of the sternum Dysplasia of the femoral head Premature epimetaphyseal fusion Cone-shaped epiphysis of the 1st metacarpal Small finger Hypertension Abnormality of movement Toe syndactyly Abnormality of the dentition Renal insufficiency Pneumonia Rod-cone dystrophy Protruding ear Hypermetropia Short humerus Short femoral neck Stage 5 chronic kidney disease Dyspnea Abnormality of the foot Finger syndactyly Short middle phalanx of finger Hallux valgus Interstitial pulmonary abnormality Exertional dyspnea Tracheomalacia Short columella Bronchomalacia Parietal bossing Bronchospasm Intercostal retractions Retrognathia Hyperlordosis Short thorax Proptosis Respiratory distress Ankyloglossia Lumbar hyperlordosis Small nail Short ribs Coxa vara Rotary nystagmus Genu varum Hypoplasia of the radius Cerebral visual impairment Cone-shaped epiphysis Hypoplasia of the ulna Smooth philtrum Joint hypermobility Telecanthus Supraventricular tachycardia Everted lower lip vermilion Narrow forehead Palpitations Patellar dislocation Short toe Spina bifida occulta Sandal gap Infantile muscular hypotonia Sleep apnea Transposition of the great arteries Proportionate short stature Obstructive sleep apnea Pierre-Robin sequence 11 pairs of ribs Pulmonic stenosis Wolff-Parkinson-White syndrome Spondylolisthesis Short 5th metacarpal Perimembranous ventricular septal defect Anterior open bite Prominent sternum Paroxysmal supraventricular tachycardia Wide nasal bridge Talipes equinovarus Highly arched eyebrow Cerebellar atrophy Malar flattening Agenesis of corpus callosum Tachycardia Lymphoproliferative disorder Thin vermilion border Sagittal craniosynostosis Nephropathy Joint laxity Asthma Ectodermal dysplasia Hip dysplasia Hepatic fibrosis Bone marrow hypocellularity Cutis laxa Cone/cone-rod dystrophy Chronic kidney disease Nephronophthisis Cutaneous finger syndactyly Elevated serum creatinine Broad distal phalanx of finger Chronic lymphatic leukemia Pes valgus Broad phalanx of the toes Absent speech Low-set ears Visual impairment Ventricular septal defect Spasticity Arrhythmia Ataxia Posteriorly rotated ears Osteopenia Short 2nd finger Low-set, posteriorly rotated ears T-cell lymphoma Cervical instability



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