Brachydactyly, and Hypodontia

Diseases related with Brachydactyly and Hypodontia

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


Top matches:

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 ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA


Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia (see this term) characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.

ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA Is also known as asped

Related symptoms:

  • Short stature
  • Pain
  • Brachydactyly
  • Delayed skeletal maturation
  • Joint hyperflexibility


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA

Medium 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

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Other less relevant matches:

Medium 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

Medium match TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME


Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.

TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME Is also known as preaxial brachydactyly syndrome, temtamy type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME

Medium match ANAUXETIC DYSPLASIA 1; ANXD1


Anauxetic dysplasia is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic femoral necks; hypoplastic iliac bodies and shallow acetabulae; irregular metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals with widened shafts; very short and broad phalanges with small, late-ossifying epiphyses and bullet-shaped middle phalanges; and midface hypoplasia. The number of chondrocytes is severely reduced in the resting and proliferating cartilage, with diminished columnization of the hypertrophic zone (summary by Thiel et al., 2005).Mutations in RMRP also cause 2 milder types of short stature with susceptibility to cancer, cartilage-hair hypoplasia (CHH ) and metaphyseal dysplasia without hypotrichosis (OMIM ). Genetic Heterogeneity of Anauxetic DysplasiaAnauxetic dysplasia-2 (ANXD2 ) is caused by mutation in the POP1 gene on chromosome 8q22.

ANAUXETIC DYSPLASIA 1; ANXD1 Is also known as spondyloepimetaphyseal dysplasia, anauxetic type|anxd|spondylometaepiphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, menger type|anauxetic dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about ANAUXETIC DYSPLASIA 1; ANXD1

Medium 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

Medium match CHAR SYNDROME


Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHAR SYNDROME

Medium match HYDRANENCEPHALY


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981).For a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDRANENCEPHALY

Medium match PYCNODYSOSTOSIS


Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Top 5 symptoms//phenotypes associated to Brachydactyly and Hypodontia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Small nail Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Nail dysplasia Syndactyly Midface retrusion Metaphyseal dysplasia Abnormality of the dentition Macrocephaly Kyphosis Delayed ossification of carpal bones Skeletal dysplasia Hyperlordosis Highly arched eyebrow Cone-shaped epiphysis Clinodactyly Coarctation of aorta Protruding ear Limb undergrowth Clinodactyly of the 5th finger Severe short stature Polydactyly

Rare Symptoms - Less than 30% cases


Ovoid vertebral bodies Metaphyseal irregularity Elbow flexion contracture Lumbar hyperlordosis Hypoplastic ilia Growth delay Kyphoscoliosis Abnormality of the nail Finger clinodactyly Short neck Abnormality of dental morphology Flexion contracture Seizures Cleft palate Hypoplasia of the capital femoral epiphysis Intellectual disability, mild Narrow chest Hepatosplenomegaly Patent ductus arteriosus Splenomegaly Downslanted palpebral fissures Hepatomegaly Depressed nasal bridge Low-set ears Strabismus Short toe Malar flattening Respiratory insufficiency Hypoplastic iliac body Anemia Hypertelorism High forehead Craniosynostosis Broad nasal tip Blue sclerae Microdontia Prominent occiput Micrognathia Hearing impairment Persistence of primary teeth Abnormality of the face Atrioventricular canal defect Abnormality of epiphysis morphology Toe syndactyly Wide nasal bridge Toenail dysplasia Short middle phalanx of the 5th finger Abnormality of the fingernails Hypotelorism Postaxial hand polydactyly Hypotrichosis Thoracic dysplasia Pain Postaxial polydactyly Delayed skeletal maturation Oral cleft Delayed eruption of teeth Anal atresia Nail dystrophy Thick vermilion border Low back pain Small face Ridged nail Short philtrum Broad forehead Thick eyebrow Abnormality of the vertebral column Spondylolisthesis Everted lower lip vermilion Sleep disturbance Supernumerary nipple Premature birth Depressed nasal ridge Osteolytic defects of the phalanges of the hand Bicuspid aortic valve Abnormal pattern of respiration Osteopetrosis Hand polydactyly Abnormality of the clavicle Coarse hair Short nose Delayed eruption of permanent teeth Bilateral postaxial polydactyly Hamartoma Increased number of teeth Persistent open anterior fontanelle Spinal canal stenosis Osteolytic defects of the distal phalanges of the hand Short clavicles Median cleft lip Spondylolysis Vaginal atresia Complete atrioventricular canal defect Horizontal ribs Accessory oral frenulum Hydrometrocolpos Abnormality of cardiovascular system morphology Hypoplasia of the epiglottis Partial atrioventricular canal defect Snoring Ptosis Myopia Ventricular septal defect Anteverted nares Congestive heart failure Absent frontal sinuses Triangular mouth Long philtrum Delayed eruption of primary teeth Agenesis of permanent teeth Recurrent fractures Mesoaxial hand polydactyly Prominent fingertip pads Decreased body weight Mesomelia Cupped ear Long palpebral fissure Natal tooth Central hypotonia Neonatal hypoglycemia Short columella Depressed nasal tip Short 5th finger Generalized joint laxity Sparse lateral eyebrow Long hallux Hypoplasia of the maxilla Otitis media Abnormality of the breast Eversion of lateral third of lower eyelids Cognitive impairment Frontal bossing Abnormality of the skeletal system Postural instability Hydrocephalus Prominent forehead Osteoporosis Brachycephaly Proptosis Apnea Carious teeth Recurrent otitis media Dental malocclusion No permanent dentition Increased susceptibility to fractures Short distal phalanx of finger Parasomnia Muscular ventricular septal defect Osteomyelitis Symphalangism of the 5th finger Abnormality of the thorax Mesoaxial foot polydactyly Distal/middle symphalangism of 5th finger Back pain Generalized hypotonia Microcephaly High palate Atrial septal defect Abnormality of pelvic girdle bone morphology Hirsutism Behavioral abnormality Feeding difficulties in infancy Pulmonic stenosis Sleep apnea Osteolysis Narrow palate Wormian bones Increased bone mineral density Bone pain Abnormal vertebral morphology Abnormality of the skin Growth hormone deficiency Prominent nose Long eyelashes Neoplasm Cutaneous syndactyly Conjunctivitis Finger syndactyly Dry skin Ectodermal dysplasia Wide intermamillary distance Eczema Fine hair Cutaneous photosensitivity Sparse scalp hair Inflammatory abnormality of the skin Split hand Thin skin Skin ulcer Oligodontia Camptodactyly Dermal atrophy Melanocytic nevus Freckling Hypoplastic nipples Ectrodactyly Alopecia of scalp Split foot Fair hair Generalized hypopigmentation Sparse axillary hair Absent nipple Breast hypoplasia Nasolacrimal duct obstruction Prominent nasal bridge Hyperhidrosis Lacrimal duct stenosis Prominent antihelix Short palm Small hand Hypoplastic toenails Mild short stature Facial cleft Postaxial foot polydactyly Abnormality of the antihelix Abnormal toenail morphology Overlapping fingers Conical tooth Advanced eruption of teeth Single median maxillary incisor Abnormal oral frenulum morphology Joint hyperflexibility Alopecia Hip dysplasia Osteoarthritis Epiphyseal dysplasia Short middle phalanx of finger Short 1st metacarpal Multiple epiphyseal dysplasia Irregular epiphyses Hyperextensibility of the finger joints Hip osteoarthritis Hip pain Pseudoepiphyses Premature osteoarthritis Pseudoepiphyses of the metacarpals Fingernail dysplasia Nail pits Horseshoe kidney Disproportionate short stature Diastema Hitchhiker thumb Talon cusp Mandibular prognathia Platyspondyly Tetraplegia Rhizomelia Aortic valve stenosis Metaphyseal widening Rocker bottom foot Flared metaphysis Short finger Thoracic kyphosis Carpal synostosis Small epiphyses Shallow acetabular fossae J-shaped sella turcica Atlantoaxial dislocation Broad phalanx Cervical cord compression Cervical subluxation Epicanthus Respiratory distress Polyhydramnios Cleft lip Cleft upper lip Short ribs Short hallux Abnormality of digit Lacrimal duct atresia Spondyloepimetaphyseal dysplasia Conical incisor Premature loss of permanent teeth Adermatoglyphia Joint laxity Sparse hair Macroglossia Coxa valga Coxa vara Relative macrocephaly Cubitus valgus Short femoral neck Thoracolumbar scoliosis Broad ribs Shield chest Tarsal synostosis Thoracolumbar kyphoscoliosis Increased vertebral height Hypoplasia of the femoral head Cervical spine instability Sensorineural hearing impairment Optic atrophy Synophrys Short metacarpal Bilateral sensorineural hearing impairment Short metatarsal Deep philtrum Abnormality of the hand Radioulnar synostosis Abnormal pelvis bone ossification



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