Brachydactyly, and Small nail

Diseases related with Brachydactyly and Small nail

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


Top matches:

Medium match ANONYCHIA CONGENITA TOTALIS


Congenital anonychia is defined as the absence of fingernails and toenails. Anonychia and its milder phenotypic variant, hyponychia, usually occur as a feature of genetic syndromes, in association with significant skeletal and limb anomalies. Isolated nonsyndromic congenital anonychia/hyponychia is a rare entity that usually follows autosomal recessive inheritance with variable expression, even within a given family. The nail phenotypes observed range from no nail field to a nail field of reduced size with an absent or rudimentary nail (summary by Bruchle et al., 2008). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-4 (NDNC4).For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (OMIM ).

ANONYCHIA CONGENITA TOTALIS Is also known as anonychia/hyponychia congenita|anonychia totalis

Related symptoms:

  • Short distal phalanx of finger
  • Anonychia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ANONYCHIA CONGENITA TOTALIS

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

Low match ADAMS-OLIVER SYNDROME 6; AOS6


Adams-Oliver syndrome 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 recurrent findings. 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:

  • Hypertension
  • Brachydactyly
  • Ventricular septal defect
  • Syndactyly
  • Abnormal heart morphology


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 6; AOS6

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match LÉRI-WEILL DYSCHONDROSTEOSIS


Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term).

LÉRI-WEILL DYSCHONDROSTEOSIS Is also known as lÉri-weill syndrome

Related symptoms:

  • Depressed nasal bridge
  • Brachydactyly
  • Wide nasal bridge
  • Clinodactyly of the 5th finger
  • Joint stiffness


SOURCES: ORPHANET MENDELIAN

More info about LÉRI-WEILL DYSCHONDROSTEOSIS

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 FIBULAR APLASIA-COMPLEX BRACHYDACTYLY SYNDROME


Fibular aplasia-complex brachydactyly syndrome is characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (WCDMP1).

FIBULAR APLASIA-COMPLEX BRACHYDACTYLY SYNDROME Is also known as du pan syndrome

Related symptoms:

  • Short stature
  • Brachydactyly
  • Syndactyly
  • Severe short stature
  • Finger syndactyly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FIBULAR APLASIA-COMPLEX BRACHYDACTYLY SYNDROME

Low match STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES


Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.

STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES Is also known as teunissen-cremers syndrome|ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly|stapes ankylosis syndrome without symphalangism

Related symptoms:

  • Hearing impairment
  • Brachydactyly
  • Abnormality of the skeletal system
  • Syndactyly
  • Conductive hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES

Low match INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP


IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

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 SCHNECKENBECKEN DYSPLASIA


Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

SCHNECKENBECKEN DYSPLASIA Is also known as chondrodysplasia with snail-like pelvis|slc35d1-cdg|chondrodysplasia, lethal neonatal, with snail-like pelvis

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SCHNECKENBECKEN DYSPLASIA

Top 5 symptoms//phenotypes associated to Brachydactyly and Small nail

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Severe short stature Uncommon - Between 30% and 50% cases
Short distal phalanx of finger Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Brachydactyly and Small nail. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micromelia Disproportionate short-limb short stature Hypoplastic toenails Nail dysplasia Abnormal facial shape Syndactyly

Rare Symptoms - Less than 30% cases


Metaphyseal irregularity Abnormality of the radius Aplasia cutis congenita Hypoplastic ilia Ovoid vertebral bodies Abnormality of the metaphysis Abnormality of epiphysis morphology Macrocephaly Diaphyseal thickening Abnormality of tibia morphology Cone-shaped epiphysis Short neck Hyperlordosis Abnormality of the hip bone Toe syndactyly Global developmental delay Dolichocephaly Abnormality of the ulna Skeletal dysplasia Aplastic/hypoplastic toenail Hearing impairment Small hand Tarsal synostosis Hypodontia Limb undergrowth Conical tooth Nail dystrophy Hypermetropia Fibular hypoplasia Clinodactyly of the 5th finger Hypotelorism Seizures Abnormality of the fingernails Anonychia Autistic behavior Wide mouth Broad hallux Limited neck range of motion Broad forehead Attention deficit hyperactivity disorder Cutaneous syndactyly Anxiety Broad thumb Short foot Underdeveloped nasal alae Conductive hearing impairment Abnormality of the skeletal system Broad-based gait Low-set, posteriorly rotated ears Ankylosis Thin upper lip vermilion Atrial septal defect Generalized hypotonia Proximal/middle symphalangism of 5th finger Strabismus Pain Low-set ears Feeding difficulties Delayed speech and language development Stapes ankylosis Fever Anteverted nares Vomiting Long nose Behavioral abnormality Constipation Posteriorly rotated ears Proximal symphalangism Hyperactivity Autism Gastroesophageal reflux Fused cervical vertebrae Low hanging columella Congenital stapes ankylosis Myopia Macroglossia Obsessive-compulsive behavior Accelerated skeletal maturation Cryptorchidism Edema Malar flattening Polyhydramnios Platyspondyly Narrow chest Abnormal form of the vertebral bodies Lymphedema Short ribs Spontaneous abortion Hypoplastic scapulae Cervical spine instability Flat acetabular roof Lateral clavicle hook Vertebral hypoplasia Hypoplastic vertebral bodies Anterior rib cupping Advanced ossification of carpal bones Severe hydrops fetalis Dumbbell-shaped long bone Unossified vertebral bodies Advanced tarsal ossification Increased fibular diameter Cleft palate Hypoplastic iliac body Scoliosis Coxa vara Growth delay Flexion contracture Kyphosis Delayed skeletal maturation Kyphoscoliosis Joint laxity Sparse hair Deformed tarsal bones Lumbar hyperlordosis Elbow flexion contracture Coxa valga Relative macrocephaly Hypoplasia of the femoral head Cubitus valgus Short femoral neck Metaphyseal dysplasia Thoracolumbar scoliosis Broad ribs Spondyloepimetaphyseal dysplasia Shield chest Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Thoracolumbar kyphoscoliosis Increased vertebral height Malaligned carpal bone Short long bone Aplasia of the fingers Joint stiffness Cutis marmorata Oligodactyly Truncus arteriosus Calvarial skull defect Esophageal varix Aplasia cutis congenita of scalp Foot oligodactyly Cutis marmorata telangiectatica congenita Depressed nasal bridge Wide nasal bridge Genu valgum Portal hypertension Genu varum Hypoplasia of the radius Abnormality of pelvic girdle bone morphology Elbow dislocation Hypoplasia of the ulna Mesomelia Tibial bowing Exostoses Short tibia Radial bowing Tricuspid regurgitation Hepatic fibrosis Abnormality of femur morphology Abnormality of the antihelix Abnormality of the dentition Polydactyly Protruding ear Anal atresia Short palm Postaxial polydactyly Postaxial hand polydactyly Mild short stature Facial cleft Postaxial foot polydactyly Abnormal toenail morphology Renal hypoplasia Thoracic dysplasia Overlapping fingers Advanced eruption of teeth Toenail dysplasia Single median maxillary incisor Abnormal oral frenulum morphology Prominent antihelix Hypertension Ventricular septal defect Abnormal heart morphology Abnormal cardiac septum morphology Hypoplastic fingernail Patellar aplasia Aplasia of metacarpal bones Short middle phalanx of finger Absent toenail Hidrotic ectodermal dysplasia Bilateral triphalangeal thumbs Finger syndactyly Limitation of joint mobility Short metacarpal Short phalanx of finger Rhizomelia Bilateral single transverse palmar creases Short metatarsal Narrow nasal bridge Selective tooth agenesis Synostosis of carpal bones Patellar dislocation Abnormality of the thumb Fibular aplasia Deviation of finger Carpal bone hypoplasia Aplasia of the middle phalanx of the hand Aplasia/Hypoplasia of the fibula Talipes equinovalgus Aplasia/Hypoplasia involving the metacarpal bones Absent toe Anhidrotic ectodermal dysplasia Hypoplasia of teeth Abnormality of the humerus Joint hypermobility Ulnar bowing Madelung deformity Abnormality of the carpal bones Abnormality of calvarial morphology Limited wrist movement Dorsal subluxation of ulna Sensorineural hearing impairment High forehead Pes planus Deeply set eye Ectodermal dysplasia High-frequency hearing impairment Bilateral sensorineural hearing impairment Hypertrichosis Gingival overgrowth Oligodontia Reduced number of teeth Abnormality of the hand Triphalangeal thumb Congenital sensorineural hearing impairment Agenesis of permanent teeth Abnormality of digit Severe sensorineural hearing impairment Snail-like ilia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Bruising susceptibility, related diseases and genetic alterations Arthritis and Nail dystrophy, related diseases and genetic alterations Congestive heart failure and Pancytopenia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more