Brachydactyly, and Micromelia

Diseases related with Brachydactyly and Micromelia

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


Top matches:

Medium match HYPOCHONDROPLASIA


Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Brachydactyly
  • Macrocephaly
  • Skeletal dysplasia


SOURCES: ORPHANET MENDELIAN

More info about HYPOCHONDROPLASIA

Medium match SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18


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:

  • Hypertelorism
  • Epicanthus
  • Brachydactyly
  • Ventriculomegaly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18

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Other less relevant matches:

Medium 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

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 SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19


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:

  • Generalized hypotonia
  • Low-set ears
  • Brachydactyly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19

Medium 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

Medium match SALDINO-MAINZER SYNDROME


Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.

SALDINO-MAINZER SYNDROME Is also known as renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome|conorenal syndrome

Related symptoms:

  • Short stature
  • Cryptorchidism
  • Delayed speech and language development
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about SALDINO-MAINZER SYNDROME

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1


Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 Is also known as med1|edm1|multiple epiphyseal dysplasia, comp-related|polyepiphyseal dysplasia type 1

Related symptoms:

  • Short stature
  • Brachydactyly
  • Gait disturbance
  • Severe short stature
  • Arthralgia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1

Medium match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Micromelia

Symptoms // Phenotype % cases
Narrow chest Uncommon - Between 30% and 50% cases
Cleft lip Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Postaxial polydactyly Uncommon - Between 30% and 50% cases
Oral cleft Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Polydactyly Syndactyly Respiratory insufficiency Genu varum Midface retrusion Thoracic dysplasia Short ribs Disproportionate short-limb short stature Abnormality of pelvic girdle bone morphology Abnormality of the metaphysis

Rare Symptoms - Less than 30% cases


Short phalanx of finger Skeletal dysplasia Aplastic/hypoplastic toenail Low-set ears Micrognathia Cleft palate Cone-shaped epiphysis Hypoplasia of the radius Lateral clavicle hook Short long bone Rhizomelia Metaphyseal widening Abnormality of epiphysis morphology Short thorax Genu valgum Cryptorchidism Joint stiffness Respiratory distress Renal insufficiency Thoracic hypoplasia Abnormality of the hip bone Osteoarthritis Limitation of joint mobility Abnormality of the radius Abnormality of femur morphology Wide nasal bridge Abnormality of the ulna Abnormality of tibia morphology Short metacarpal Severe short stature Hydrocephalus Horizontal ribs Ventriculomegaly Bell-shaped thorax Polyhydramnios Abnormality of the genitourinary system Nephrocalcinosis Stage 5 chronic kidney disease Ectodermal dysplasia Rod-cone dystrophy Aplasia/Hypoplasia of the fibula Recurrent respiratory infections Carpal bone hypoplasia Tarsal synostosis Narrow nasal bridge Fibular hypoplasia Synostosis of carpal bones Patellar dislocation Abnormality of the thumb Fibular aplasia Deviation of finger Aplasia of the middle phalanx of the hand Obesity Talipes equinovalgus Aplasia/Hypoplasia involving the metacarpal bones Absent toe Aplasia of metacarpal bones Aplasia of the fingers Deformed tarsal bones Malaligned carpal bone Delayed speech and language development Gait disturbance Intellectual disability Arthralgia Ambiguous genitalia Malar flattening Hypospadias Agenesis of corpus callosum Micropenis Deeply set eye Abnormality of the pinna Cleft upper lip Wide intermamillary distance Sandal gap Abnormal facial shape Holoprosencephaly Aplasia/Hypoplasia of the corpus callosum Scrotal hypoplasia Adrenal hypoplasia Depressed nasal tip Barrel-shaped chest Shield chest Ulnar deviation of the hand Microphallus Abnormality of the skeletal system Limited hip movement Short palm Delayed epiphyseal ossification Round face Waddling gait Hip dysplasia Joint dislocation Epiphyseal dysplasia Spondyloepiphyseal dysplasia Mild short stature Short femoral neck Irregular vertebral endplates Ovoid vertebral bodies Short fourth metatarsal Generalized joint laxity Multiple epiphyseal dysplasia Avascular necrosis of the capital femoral epiphysis Irregular epiphyses Small epiphyses Broad femoral neck Hip osteoarthritis Pseudoepiphyses Premature osteoarthritis Short middle phalanx of finger Aplasia/Hypoplasia of the lungs Short metatarsal Glossoptosis Sensorineural hearing impairment Frontal bossing Proptosis Premature birth High myopia Femoral bowing Hypoplastic scapulae Hypoplastic ischia Short femur Upper airway obstruction Dumbbell-shaped long bone Depressed nasal bridge Clinodactyly of the 5th finger Elbow dislocation Hypoplasia of the ulna Vertebral wedging Cystic hygroma Tibial bowing Spinal canal stenosis Macrocephaly Hyperlordosis Joint hyperflexibility Abnormal form of the vertebral bodies Bowing of the long bones Short toe Sleep apnea Abnormality of the elbow Preaxial polydactyly Childhood onset short-limb short stature Hypertelorism Epicanthus Thin upper lip vermilion Platyspondyly Intestinal malrotation Polycystic kidney dysplasia Mesomelia Exostoses Bilateral single transverse palmar creases Prominent forehead Abnormality of the sternum Postaxial foot polydactyly Scoliosis Abnormality of the clavicle Generalized hypotonia Ventricular septal defect Long philtrum Respiratory failure Abnormality of retinal pigmentation Dolichocephaly Pulmonary hypoplasia Relative macrocephaly Prominent occiput Hypoplastic ilia Finger syndactyly Small nail Nephronophthisis Abnormality of the ribs Short tibia Abnormality of the carpal bones Radial bowing Hypoplastic fingernail Patellar aplasia Abnormality of the humerus Diaphyseal thickening Ulnar bowing Madelung deformity Abnormality of calvarial morphology Postaxial hand polydactyly Limited wrist movement Dorsal subluxation of ulna Feeding difficulties in infancy Abnormality of the liver Toe syndactyly Nephropathy Short foot Ulnar deviation of the hand or of fingers of the hand



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