Brachydactyly, and Interphalangeal joint contracture of finger

Diseases related with Brachydactyly and Interphalangeal joint contracture of finger

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

Top matches:

Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.

SYNDACTYLY TYPE 5 Is also known as sd5|postaxial syndactyly with metacarpal synostosis|syndactyly with metacarpal and metatarsal fusion

Related symptoms:

  • Brachydactyly
  • Syndactyly
  • Clinodactyly of the 5th finger
  • Camptodactyly of finger
  • Abnormality of the foot


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYNDACTYLY TYPE 5

Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.

PROXIMAL SYMPHALANGISM Is also known as symphalangism, cushing type

Related symptoms:

  • Strabismus
  • Sensorineural hearing impairment
  • Brachydactyly
  • Clinodactyly of the 5th finger
  • Pes planus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SYMPHALANGISM

Synpolydactyly (SPD), or syndactyly type II, is defined as a connection between the middle and ring fingers and fourth and fifth toes, variably associated with postaxial polydactyly in the same digits. Minor local anomalies and various metacarpal or metatarsal abnormalities may be present (summary by Merlob and Grunebaum, 1986).In some families with SPD, the foot anomalies are characterized by preaxial as well as postaxial polydactyly, and appear to be fully penetrant. The more severe features of classic SPD, involving 3/4 synpolydactyly in the hands and 4/5 synpolydactyly in the feet, also occur, but at reduced penetrance. This foot phenotype is not seen in patients with classic SPD due to HOXD13 polyalanine tract expansions (Goodman et al., 1998).Malik (2012) reviewed the syndactylies, noting that the extreme phenotypic heterogeneity observed in SPD families consists of approximately 18 clinical variants that can be 'lumped' into 3 categories: typical SPD features, minor variants, and unusual phenotypes. Genetic Heterogeneity of SynpolydactylySee also SPD2 (OMIM ), caused by mutation in the fibulin-1 gene (FBLN1 ) on chromosome 22q13, and SPD3 (OMIM ), which has been mapped to chromosome 14q11.2-q12.

SYNPOLYDACTYLY TYPE 1 Is also known as syndactyly, type ii|synpolydactyly, vordingborg type|spd, vordingborg type|sd2a|sdty2|spd1|sd2, vordingborg type

Related symptoms:

  • Brachydactyly
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger
  • Polydactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYNPOLYDACTYLY TYPE 1

Other less relevant matches:

Related symptoms:

  • Pes cavus
  • Thin upper lip vermilion
  • Camptodactyly of finger
  • Single transverse palmar crease
  • Tall stature


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME

Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.

TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME Is also known as odpf syndrome|odpd|osseous dysplasia, digital, with facial pigmentary defects and multiple frenula|todpd|terminal osseous dysplasia and pigmentary defects|odpf

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Ptosis
  • Low-set ears
  • Flexion contracture


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME

Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

Low match FRONTORHINY

Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.

FRONTORHINY Is also known as frontonasal dysplasia type 1|isolated median cleft face syndrome|alx3-related frontonasal dysplasia

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about FRONTORHINY

Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).

WAARDENBURG SYNDROME, TYPE 3; WS3 Is also known as klein-waardenburg syndrome|waardenburg syndrome, type iii|waardenburg syndrome with upper limb anomalies

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 3; WS3

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.

FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME Is also known as alx1-related frontonasal dysplasia|frontonasal dysplasia type 3

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Interphalangeal joint contracture of finger

Symptoms // Phenotype % cases
Camptodactyly of finger Very Common - Between 80% and 100% cases
Cleft palate Uncommon - Between 30% and 50% cases
Finger clinodactyly Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Brachydactyly and Interphalangeal joint contracture of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Clinodactyly of the 5th finger Low-set, posteriorly rotated ears Ptosis Clinodactyly Flexion contracture Carpal synostosis Epicanthus Cataract

Rare Symptoms - Less than 30% cases

Iris coloboma Abnormality of skin pigmentation Telecanthus Midface retrusion Skeletal dysplasia Osteoporosis Underdeveloped nasal alae Abnormality of the skeletal system Multiple joint contractures Cleft lip Failure to thrive Severe short stature Wide nasal bridge Micromelia Aplasia of the middle phalanx of the hand Microphthalmia Hypoplasia of the maxilla Preauricular skin tag Widow's peak Cranium bifidum occultum Lipoma of corpus callosum Hearing impairment Arthrogryposis multiplex congenita Caudal appendage Intellectual disability Joint stiffness Scoliosis 4-5 toe syndactyly Short distal phalanx of finger Sensorineural hearing impairment Strabismus Abnormality of the foot Joint contracture of the hand Short palm Camptodactyly Finger syndactyly Cutaneous finger syndactyly 3-4 finger syndactyly Flared humeral metaphysis Severe platyspondyly Cervical instability Abnormal enchondral ossification Anisospondyly Flared femoral metaphysis Platyspondyly Hypoplastic cervical vertebrae Short diaphyses Snail-like ilia 2-3 toe syndactyly Relatively short spine Kyphoscoliosis Abnormal metaphyseal vascular invasion High forehead Respiratory failure Long coccyx Dumbbell-shaped metaphyses Halberd-shaped pelvis Hyperplasia of the femoral trochanters Absent primary metaphyseal spongiosa Pseudoarthrosis Confusion Abnormality of the intervertebral disk Short finger Limb undergrowth Abnormality of the ribs Narrow chest Osteoarthritis Abnormality of the metaphysis Abnormal form of the vertebral bodies Short ribs Epiphyseal dysplasia Akinesia Abnormal joint morphology Peripheral axonal neuropathy Hypoplasia of the odontoid process Aplasia/Hypoplasia of the lungs Fetal akinesia sequence Abnormal cortical bone morphology Flared iliac wings Enlarged joints Spondylometaphyseal dysplasia Rough bone trabeculation Thoracic kyphoscoliosis Long thorax Short foot Generalized hypotonia Tetralogy of Fallot Narrow naris Partial albinism Dacryocystitis Poliosis Hypoplasia of the corpus callosum Intellectual disability, mild Agenesis of corpus callosum Posteriorly rotated ears Brachycephaly Conductive hearing impairment Recurrent pneumonia White forelock Sparse eyelashes Sparse eyebrow Absent eyebrow Facial cleft Eyelid coloboma Bifid nose Wide nasal base Upper eyelid coloboma Prominent glabella Hypoplasia of the frontal bone Pectoral muscle hypoplasia/aplasia Bronchomalacia Atelectasis Microcephaly Hypopigmentation of the skin Kyphosis Atrial septal defect Intellectual disability, severe Vomiting Mandibular prognathia Blepharophimosis Prominent nasal bridge Spastic paraplegia Synophrys Paraplegia Thick vermilion border Abdominal distention White hair Aganglionic megacolon Anorexia Scapular winging Hypopigmented skin patches Congenital sensorineural hearing impairment Albinism Premature graying of hair Sprengel anomaly Vitiligo Blue irides Heterochromia iridis Prominent forehead Ulnar deviation of finger Hydrocephalus Tarsal synostosis Low-set ears Metacarpophalangeal synostosis Proximal/middle symphalangism of 5th finger Abnormal finger flexion creases Malar flattening Proximal symphalangism Elbow ankylosis Abnormality of the wrist Synostosis of carpal bones Coloboma Elbow dislocation Chess-pawn distal phalanges Short toe Abnormality of the metacarpal bones Anal stenosis Fibroma Toe clinodactyly Abnormal oral frenulum morphology Camptodactyly of toe Mesomelic arm shortening Mesomelic leg shortening Localized skin lesion Polydactyly Type A1 brachydactyly Abnormal hand bone ossification 6 metacarpals Abnormality of the hand Broad hallux Postaxial foot polydactyly Preaxial foot polydactyly Short middle phalanx of the 5th finger Postaxial polydactyly Hallux varus Mesoaxial hand polydactyly Contracture of the proximal interphalangeal joint of the 5th finger Y-shaped metacarpals 2nd-5th toe middle phalangeal hypoplasia Distal symphalangism of hands Pes cavus Thin upper lip vermilion Single transverse palmar crease Tall stature Abnormal vertebral morphology Bilateral single transverse palmar creases Broad foot Thoracolumbar scoliosis Flat acetabular roof Short 1st metacarpal Short lower limbs Abnormal foot bone ossification Localized osteoporosis Respiratory insufficiency Aplasia/Hypoplasia of the corpus callosum Abnormality of the adrenal glands Aplasia/Hypoplasia of the thymus Deviation of toes Enlarged proximal interphalangeal joints Fused fourth and fifth metacarpals Metatarsal synostosis 3-4 toe syndactyly Lumbar hyperlordosis Encephalocele Absent distal interphalangeal creases Diabetes insipidus Osteomalacia Hypopituitarism Bifid tongue Hypoplastic frontal sinuses Dermoid cyst Congenital conductive hearing impairment Metacarpal synostosis Midline nasal groove Basal encephalocele Short stature Short phalanx of finger Depressed nasal bridge Abnormality of the gastrointestinal tract Abnormality of the musculature Growth delay Subcutaneous nodule Muscular hypotonia Feeding difficulties Macrocephaly Short neck Immunodeficiency Pes planus Osteopenia Coarse facial features Malabsorption Recurrent fractures Thickened skin Telangiectasia of the skin Chronic diarrhea Gingival overgrowth Lymphedema Hyperpigmentation of the skin Skin ulcer Recurrent bacterial infections Polycystic ovaries Increased susceptibility to fractures Urticaria Abnormality of dental morphology Steatorrhea Aplasia/Hypoplasia of the frontal sinuses


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Nail dystrophy, related diseases and genetic alterations Motor delay and Kyphosis, related diseases and genetic alterations