Brachydactyly, and Nail dysplasia

Diseases related with Brachydactyly and Nail dysplasia

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


Top matches:

Low match MAL DE MELEDA


Mal de Meleda (MdM) is a diffuse palmoplantar keratoderma, initially reported in the Island of Meleda, characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.

MAL DE MELEDA Is also known as keratosis palmoplantaris transgrediens of siemens|meleda disease|transgrediens palmoplantar keratoderma of siemens

Related symptoms:

  • Brachydactyly
  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema
  • Ichthyosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MAL DE MELEDA

Low match BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME


Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.

BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME Is also known as brachydactyly-joint dysplasia syndrome|liebenberg syndrome|brachydactyly with joint dysplasia|synostosis, carpal, with dysplastic elbow joints and brachydactyly

Related symptoms:

  • Brachydactyly
  • Macrocephaly
  • Talipes equinovarus
  • Clinodactyly of the 5th finger
  • Camptodactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME

Low 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

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Other less relevant matches:

Low match AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME


Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.

AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME Is also known as ddod syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME

Low match ADULT SYNDROME


ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

ADULT SYNDROME Is also known as acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|acro-dermato-ungual-lacrimal-tooth syndrome

Related symptoms:

  • Brachydactyly
  • Wide nasal bridge
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ADULT SYNDROME

Low match ANAUXETIC DYSPLASIA


Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. Vertebrae are ovoid with concave dorsal surfaces in the lumbar region and show delayed bone maturation. Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by Barraza-Garcia et al., 2017).For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (OMIM ).

ANAUXETIC DYSPLASIA Is also known as spondyloepimetaphyseal dysplasia, menger type|spondyloepimetaphyseal dysplasia, anauxetic type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about ANAUXETIC DYSPLASIA

Low 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

Low 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

Low 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

Low match SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15


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}).SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Low-set ears
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15

Top 5 symptoms//phenotypes associated to Brachydactyly and Nail dysplasia

Symptoms // Phenotype % cases
Limb undergrowth Common - Between 50% and 80% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Small nail Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Postaxial polydactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Polydactyly Narrow chest Syndactyly Hypodontia Nail dystrophy Abnormal facial shape Fine hair Midface retrusion Toe syndactyly Short distal phalanx of finger Ectodermal dysplasia Thoracic dysplasia Bilateral postaxial polydactyly Oral cleft Postaxial hand polydactyly Skeletal dysplasia Short ribs Clinodactyly of the 5th finger Cone-shaped epiphysis Sparse hair Scoliosis

Rare Symptoms - Less than 30% cases


Broad nail Lumbar hyperlordosis Intellectual disability Coxa vara Toenail dysplasia Relative macrocephaly Conical tooth Delayed ossification of carpal bones Short femoral neck Metaphyseal dysplasia Cleft lip Joint laxity Hyperlordosis Microdontia Respiratory insufficiency Epicanthus Dolichocephaly Delayed skeletal maturation Hyperhidrosis Agenesis of permanent teeth Hypoplasia of teeth Micromelia Dry skin Renal insufficiency Oligodontia Hypotelorism Anal atresia Camptodactyly Elbow flexion contracture Abnormality of the fingernails Seizures Abnormality of the dentition Severe short stature Ovoid vertebral bodies Short palm Mesomelia Hypoplastic iliac wing Cleft upper lip Disproportionate short-limb short stature Genu varum Hypoplasia of the radius Hypoplasia of the ulna Short thorax Abnormality of the sternum Disproportionate short stature Short humerus Short tibia Short femur Aplasia/Hypoplasia of the eyebrow Flared iliac wings Short proximal phalanx of finger Cupped ribs Polycystic kidney dysplasia Cone-shaped metacarpal epiphyses Short proximal phalanx of thumb Enlargement of the distal femoral epiphysis Abnormality of the femoral neck Cone-shaped capital femoral epiphysis Fibular overgrowth Short metacarpal Horseshoe kidney Coarctation of aorta Thoracolumbar kyphoscoliosis Spondyloepimetaphyseal dysplasia Hypoplasia of the epiglottis Hydrometrocolpos Shield chest Accessory oral frenulum Horizontal ribs Complete atrioventricular canal defect Vaginal atresia Hypoplasia of the capital femoral epiphysis Median cleft lip Short clavicles Premature epimetaphyseal fusion Spinal canal stenosis Increased number of teeth Hamartoma Increased vertebral height Atrioventricular canal defect Hypoplasia of the femoral head Hypoplastic iliac body Cervical spine instability Pectus excavatum Cutaneous syndactyly Pectus carinatum Dysplasia of the femoral head Small finger Cone-shaped epiphysis of the 1st metacarpal Fused teeth Sagittal craniosynostosis Peripheral pulmonary artery stenosis Short nail Hypoplastic ilia Depressed nasal bridge 3-4 toe syndactyly Cleft palate Low-set ears Short uvula High palate Short lingual frenulum Nephronophthisis Flat acetabular roof Hypoplastic scapulae Edema Hydrops fetalis Bowing of the long bones Hypospadias Cystic hygroma Hepatic failure Pulmonary hypoplasia Renal cyst Renal hypoplasia Scaphocephaly Hepatomegaly Ascites Craniosynostosis Micrognathia Short long bone Frontal bossing Thoracic hypoplasia Abnormality of the skeletal system Polyhydramnios Patent ductus arteriosus Splenomegaly Rod-cone dystrophy Telecanthus Pulmonic stenosis Chronic kidney disease Respiratory distress Stage 5 chronic kidney disease Cirrhosis Everted lower lip vermilion Cholestasis Rhizomelia Hepatic fibrosis Downslanted palpebral fissures Sandal gap Cutis laxa Widely spaced teeth Hepatosplenomegaly Premature loss of permanent teeth Broad ribs Abnormal oral frenulum morphology Protruding ear Small hand Hypoplastic toenails Mild short stature Facial cleft Postaxial foot polydactyly Abnormality of the antihelix Abnormal toenail morphology Overlapping fingers Advanced eruption of teeth Single median maxillary incisor Prominent antihelix Long metacarpals Hearing impairment Sensorineural hearing impairment High forehead Pes planus Deeply set eye Joint hypermobility Bilateral sensorineural hearing impairment Hypertrichosis Gingival overgrowth Reduced number of teeth Abnormality of the hand Triphalangeal thumb Radially deviated wrists 2-3 finger syndactyly Anonychia Hyperkeratosis with erythema Hyperkeratosis Erythema Ichthyosis Palmoplantar keratoderma Palmoplantar hyperkeratosis Abnormality of the mouth Fragile nails Subungual hyperkeratosis Thick nail Concave nail Diffuse palmoplantar keratoderma Ainhum Congenital symmetrical palmoplantar keratosis Abnormality of the distal phalanx of finger Talipes equinovarus Joint stiffness Metaphyseal widening Elbow dislocation Aplasia/Hypoplasia of the radius Synostosis of carpal bones Carpal synostosis Abnormality of the ulna Ridged nail Abnormality of the humerus Abnormality of the carpal bones Joint contracture of the 5th finger Congenital sensorineural hearing impairment Abnormality of digit Thoracolumbar scoliosis Nail pits Ectrodactyly Alopecia of scalp Split foot Fair hair Generalized hypopigmentation Sparse axillary hair Absent nipple Breast hypoplasia Nasolacrimal duct obstruction Fingernail dysplasia Lacrimal duct stenosis Lacrimal duct atresia Freckling Conical incisor Adermatoglyphia Global developmental delay Growth delay Flexion contracture Short neck Kyphosis Kyphoscoliosis Macroglossia Coxa valga Cubitus valgus Metaphyseal irregularity Hypoplastic nipples Abnormality of dental morphology Aplasia cutis congenita Hypotrichosis Severe sensorineural hearing impairment High-frequency hearing impairment Selective tooth agenesis Anhidrotic ectodermal dysplasia Absent toenail Hidrotic ectodermal dysplasia Bilateral triphalangeal thumbs Wide nasal bridge Clinodactyly Alopecia Prominent nasal bridge Finger syndactyly Wide intermamillary distance Melanocytic nevus Eczema Cutaneous photosensitivity Sparse scalp hair Inflammatory abnormality of the skin Split hand Thin skin Abnormality of the face Skin ulcer Abnormality of the nail Finger clinodactyly Conjunctivitis Dermal atrophy Partial atrioventricular canal defect



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Arthralgia, related diseases and genetic alterations Downslanted palpebral fissures and Microtia, related diseases and genetic alterations Delayed speech and language development and Large fontanelles, related diseases and genetic alterations

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