Brachydactyly, and Postaxial hand polydactyly

Diseases related with Brachydactyly and Postaxial hand polydactyly

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


Top matches:

Medium match SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2


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 2 WITH OR WITHOUT POLYDACTYLY; SRTD2 Is also known as asphyxiating thoracic dystrophy 2|atd2

Related symptoms:

  • Brachydactyly
  • Respiratory insufficiency
  • Polydactyly
  • Cleft lip
  • Narrow chest


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2

Medium match ACROFACIAL DYSOSTOSIS, WEYERS TYPE


Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.

ACROFACIAL DYSOSTOSIS, WEYERS TYPE Is also known as weyers acrodental dysostosis|acrodental dysostosis of weyers|weyers acrofacial dysostosis|curry-hall syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Brachydactyly
  • Abnormality of the dentition
  • Clinodactyly of the 5th finger


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, WEYERS TYPE

Medium 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

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Other less relevant matches:

Medium match JEUNE SYNDROME


Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.

JEUNE SYNDROME Is also known as asphyxiating thoracic dystrophy of the newborn|jatd|jeune asphyxiating thoracic dystrophy

Related symptoms:

  • Short stature
  • Brachydactyly
  • Respiratory insufficiency
  • Renal insufficiency
  • Skeletal dysplasia


SOURCES: ORPHANET MENDELIAN

More info about JEUNE SYNDROME

Medium match BARDET-BIEDL SYNDROME 17; BBS17


BBS17 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Brachydactyly
  • Renal insufficiency
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 17; BBS17

Medium match MCKUSICK-KAUFMAN SYNDROME


McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

Medium match CRANIOECTODERMAL DYSPLASIA 3; CED3


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

Related symptoms:

  • Short stature
  • Micrognathia
  • Brachydactyly
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 3; CED3

Medium match SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7


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 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 Is also known as short rib-polydactyly syndrome, type v|srps5

Related symptoms:

  • Cleft palate
  • High palate
  • Epicanthus
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7

Medium match SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY; SRTD16


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 with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Short stature
  • Low-set ears
  • Motor delay
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY; SRTD16

Medium match SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10


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 ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hepatomegaly
  • Brachydactyly
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10

Top 5 symptoms//phenotypes associated to Brachydactyly and Postaxial hand polydactyly

Symptoms // Phenotype % cases
Polydactyly Common - Between 50% and 80% cases
Postaxial polydactyly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Limb undergrowth Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Postaxial hand polydactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Thoracic dysplasia Renal insufficiency Narrow chest Postaxial foot polydactyly Short ribs Bilateral postaxial polydactyly Oral cleft Cleft lip Stage 5 chronic kidney disease Rhizomelia Cone-shaped epiphysis Nephronophthisis Syndactyly

Rare Symptoms - Less than 30% cases


Sparse hair Short thorax Short foot Respiratory distress Renal cyst Short metacarpal Retinal degeneration Sandal gap Short long bone Rod-cone dystrophy Flat acetabular roof Obesity Fine hair Global developmental delay Thoracic hypoplasia Finger syndactyly Telecanthus Short phalanx of finger Hepatic failure Toe syndactyly Mesomelia Micromelia Chronic kidney disease Ventricular septal defect High palate Dolichocephaly Cleft palate Anal atresia Intellectual disability Widely spaced teeth Short distal phalanx of finger Nail dysplasia Cone-shaped epiphyses of the phalanges of the hand Abnormality of the skeletal system Hepatic fibrosis Cholestasis Cutis laxa Scaphocephaly Hypoplasia of teeth Dry skin Ectodermal dysplasia Everted lower lip vermilion Cirrhosis Pulmonic stenosis Craniosynostosis Sagittal craniosynostosis Frontal bossing Macrocephaly Micrognathia Glandular hypospadias Hydrometrocolpos Urethral stricture Urogenital sinus anomaly Ectopic anus Tarsal synostosis Joint laxity Bowing of the long bones Peripheral pulmonary artery stenosis Blindness High forehead Hypermetropia Carious teeth Full cheeks Short metatarsal Protuberant abdomen Hepatomegaly Ventriculomegaly Hydrocephalus Splenomegaly Hypoplasia of the corpus callosum Visual loss Nyctalopia Genu valgum Retinal dystrophy Cerebellar vermis hypoplasia Oculomotor apraxia Glucose intolerance Visual field defect Bell-shaped thorax Midface retrusion Wide nasal bridge Short nail Abnormality of the metacarpal bones Broad nail 3-4 toe syndactyly Epicanthus Edema Hypospadias Pulmonary hypoplasia Ascites Microdontia Renal hypoplasia Hydrops fetalis Depressed nasal bridge Polycystic kidney dysplasia Aplasia/Hypoplasia of the eyebrow Agenesis of permanent teeth Cystic hygroma Hypoplastic scapulae Short lingual frenulum Fused teeth Short uvula Low-set ears Motor delay Hypoplastic left heart Foot polydactyly Renal hypoplasia/aplasia Abnormality of the foot Conical tooth Advanced eruption of teeth Toenail dysplasia Single median maxillary incisor Abnormal oral frenulum morphology Prominent antihelix Talipes equinovarus Camptodactyly Limitation of joint mobility Abnormal toenail morphology Split hand Omphalocele Overfolded helix Cupped ear Preaxial hand polydactyly Femoral bowing Ectrodactyly Fibular hypoplasia Overlapping fingers Abnormality of the antihelix Short hallux Protruding ear Short middle phalanx of finger Broad palm Spinal cord compression Atlantoaxial instability Seizures Abnormality of the dentition Clinodactyly of the 5th finger Severe short stature Nail dystrophy Facial cleft Short palm Small hand Hypodontia Hypotelorism Small nail Abnormality of the fingernails Hypoplastic toenails Mild short stature Split foot Short femur Multicystic kidney dysplasia Hyposmia Micropenis Situs inversus totalis Cone/cone-rod dystrophy Anosmia Polydipsia Polyuria External genital hypoplasia Undetectable electroretinogram Mesoaxial polydactyly Cognitive impairment Y-shaped metacarpals Failure to thrive Cryptorchidism Atrial septal defect Patent ductus arteriosus Hydronephrosis Tetralogy of Fallot Aganglionic megacolon Hypogonadism Abnormality of the clavicle Abnormality of femur morphology Absent forearm Patellar aplasia Abnormality of fibula morphology Aplasia/Hypoplasia of the ulna Absent tibia Popliteal pterygium Aplasia/Hypoplasia of the tibia Hand monodactyly Rudimentary to absent tibiae Aplasia of the 3rd finger Aplasia/Hypoplasia of the lungs Skeletal dysplasia Feeding difficulties in infancy Abnormality of the liver Nephropathy Abnormality of the ribs Abnormality of the metaphysis Abnormality of retinal pigmentation Abnormality of pelvic girdle bone morphology Abnormality of the sternum Lateral clavicle hook



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