Brachydactyly, and Small hand

Diseases related with Brachydactyly and Small hand

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41

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 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE


Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE Is also known as smd, kozlowski type

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE

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Other less relevant matches:

Medium match GELEOPHYSIC DYSPLASIA 3; GPHYSD3


Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

Medium match SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME


Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

Medium match ACROMICRIC DYSPLASIA


Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.

Related symptoms:

  • Short stature
  • Growth delay
  • Abnormal facial shape
  • Brachydactyly
  • Anteverted nares


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ACROMICRIC DYSPLASIA

Medium 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

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4


Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 Is also known as med4|multiple epiphyseal dysplasia, autosomal recessive|rmed|edm4|polyepiphyseal dysplasia type 4|multiple epiphyseal dysplasia with bilayered patellae|autosomal recessive multiple epiphyseal dysplasia|multiple epiphyseal dysplasia with clubfoot

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Cleft palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4

Medium match SMITH-MCCORT DYSPLASIA 2; SMC2


Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC ), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013).For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SMITH-MCCORT DYSPLASIA 2; SMC2

Medium match SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3


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 3 WITH OR WITHOUT POLYDACTYLY; SRTD3 Is also known as srps2b|polydactyly with neonatal chondrodystrophy, type iii|verma-naumoff syndrome|asphyxiating thoracic dystrophy 3|short rib-polydactyly syndrome, type i|polydactyly with neonatal chondrodystrophy, type i|srps3|short rib-polydactyly syndrome, type iib|s

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Brachydactyly
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3

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

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Severe short stature Uncommon - Between 30% and 50% cases
Short metacarpal Uncommon - Between 30% and 50% cases
Limb undergrowth Uncommon - Between 30% and 50% cases
Long philtrum Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Growth delay Short neck Intellectual disability Myopia Epiphyseal dysplasia Metaphyseal irregularity Generalized hypotonia Abnormal facial shape Delayed skeletal maturation Anteverted nares Pain Cone-shaped epiphysis

Rare Symptoms - Less than 30% cases


Skeletal dysplasia Osteoarthritis Short phalanx of finger Depressed nasal bridge Gait disturbance Kyphosis Facial asymmetry Arthralgia Kyphoscoliosis Pectus carinatum Platyspondyly Genu valgum Limitation of joint mobility Muscular hypotonia Abnormality of epiphysis morphology Cleft palate Growth abnormality Strabismus Hypoplasia of the odontoid process Disproportionate short-trunk short stature Hoarse voice Thickened skin Round face Thick vermilion border Bulbous nose Joint stiffness Global developmental delay Talipes equinovarus Hypermetropia Short palm Small nail Clinodactyly of the 5th finger Polydactyly Mild short stature Posteriorly rotated ears Seizures Short foot Thoracic dysplasia Anal atresia Postaxial polydactyly Micromelia Hyperlordosis Metatarsus adductus Gastroesophageal reflux Autism Short middle phalanx of finger Atrial septal defect Bilateral talipes equinovarus Spondyloepiphyseal dysplasia Hyperactivity Vomiting Multiple epiphyseal dysplasia Abnormality of the knee Constipation Flat capital femoral epiphysis Hip subluxation Short finger Thin upper lip vermilion Internal notch of the femoral head Wide mouth Clinodactyly Fever Obsessive-compulsive behavior Broad-based gait Behavioral abnormality Broad forehead Attention deficit hyperactivity disorder Autistic behavior Low-set ears Rigidity Arthritis Feeding difficulties Low-set, posteriorly rotated ears Hip dysplasia Anxiety Flexion contracture Delayed speech and language development Limited elbow extension Knee pain Hypoplasia of the ulna Cleft upper lip Oral cleft Flat face Intestinal malrotation Ambiguous genitalia Abnormality of the genital system Renal dysplasia Short ribs Polycystic kidney dysplasia Preaxial polydactyly Hand polydactyly Metaphyseal widening Thoracic hypoplasia Micropenis Femoral bowing Metaphyseal dysplasia Transposition of the great arteries Fibular hypoplasia Enlarged kidney Bifid tongue Lateral clavicle hook Cerebellar cyst Horizontal ribs Absent tibia Hamartoma of tongue Acetabular spurs Cleft lip Agenesis of corpus callosum Limited elbow flexion Constrictive median neuropathy Hypoplasia of the femoral head Abnormality of the patella Double-layered patella Abnormality of the skeletal system Mandibular prognathia Coarse facial features Pes planus Joint laxity Lumbar hyperlordosis Decreased body weight Rhizomelia Short metatarsal Barrel-shaped chest Respiratory distress Hypoplastic pelvis Myelopathy Broad femoral neck Thoracolumbar kyphosis Flattened epiphysis Broad phalanx Broad metatarsal Arthralgia of the hip Atlantoaxial instability Small forehead Flattened femoral head Respiratory insufficiency Fifth metacarpal with ulnar notch Thick eyebrow Abnormality of femur morphology Abnormality of the foot Abnormal toenail morphology Overlapping fingers Conical tooth Advanced eruption of teeth Toenail dysplasia Single median maxillary incisor Abnormal oral frenulum morphology Prominent antihelix High forehead Narrow chest Waddling gait Postaxial foot polydactyly Abnormality of the face Coxa vara Genu varum Bowing of the legs Flared metaphysis Short thorax Abnormal joint morphology Flat acetabular roof Flared iliac wings Enlarged joints Abnormality of the antihelix Facial cleft Spondylometaphyseal dysplasia Epileptic spasms Microcephaly High palate Dysarthria Babinski sign Hypsarrhythmia Paraparesis Short chin Spastic paraparesis Nasal speech Infantile spasms Enuresis Hypoplastic toenails Oval face Enuresis nocturna Abnormality of the dentition Protruding ear Nail dystrophy Hypodontia Nail dysplasia Postaxial hand polydactyly Hypotelorism Abnormality of the fingernails Abnormality of the rib cage Carpal bone hypoplasia Ovoid vertebral bodies Hyposegmentation of neutrophil nuclei Single transverse palmar crease Progressive visual loss Narrow forehead Fine hair Sandal gap Cutis laxa Dyschromatopsia Achromatopsia Prominent glabella Blue cone monochromacy Nonprogressive visual loss Long face Short nose Narrow mouth Respiratory tract infection Thick lower lip vermilion Long eyelashes Narrow palpebral fissure Short long bone Deep philtrum Decreased nerve conduction velocity Abnormal eyebrow morphology Thin vermilion border Postnatal growth retardation Aplastic clavicle Full cheeks Caudal appendage Irregular acetabular roof Severe carpal ossification delay Irregular, rachitic-like metaphyses Hepatomegaly Wide nasal bridge Pneumonia Respiratory failure Dyspnea Apnea Mitral regurgitation Proptosis Sleep apnea Pulmonary artery stenosis Subglottic stenosis Hypertelorism Epicanthus Optic atrophy Blindness Syndactyly Brachycephaly Reduced visual acuity Metaphyseal spurs



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