Brachydactyly, and Microdontia

Diseases related with Brachydactyly and Microdontia

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


Top matches:

Medium match LARON SYNDROME


Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

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

Medium match COFFIN-SIRIS SYNDROME 7; CSS7


Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

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Other less relevant matches:

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

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 COLE-CARPENTER SYNDROME


Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

Low match GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY


GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

Low match MOEBIUS SYNDROME


Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.

MOEBIUS SYNDROME Is also known as mÖbius syndrome|congenital facial diplegia

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Muscular hypotonia
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MOEBIUS SYNDROME

Low match CRANIOECTODERMAL DYSPLASIA 2; CED2


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 a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Low match SHORT SYNDROME


SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Microdontia

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Clinodactyly Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Syndactyly Midface retrusion Global developmental delay Hypertelorism Cleft palate High palate Blue sclerae Delayed eruption of teeth Severe short stature Abnormal facial shape Abnormality of the dentition Epicanthus Growth delay Craniosynostosis Prominent forehead Abnormal heart morphology Hydrops fetalis Failure to thrive Low-set ears Hypodontia Intrauterine growth retardation Frontal bossing High pitched voice High forehead Reduced number of teeth Motor delay Delayed skeletal maturation

Rare Symptoms - Less than 30% cases


Hypoplastic nasal bridge Polydactyly Renal insufficiency Edema Hypoplasia of penis Depressed nasal ridge Bilateral sensorineural hearing impairment Osteoarthritis Sensorineural hearing impairment Hypohidrosis Short toe Broad philtrum Dolichocephaly Neurological speech impairment Hypercholesterolemia Feeding difficulties in infancy Abnormality of the skeletal system Downslanted palpebral fissures Depressed nasal bridge Delayed speech and language development Strabismus Truncal obesity Sparse hair Renal cyst Narrow chest Joint hyperflexibility Joint laxity Telecanthus Inguinal hernia Hernia Everted lower lip vermilion Corneal opacity Increased body weight Deeply set eye Aplasia/Hypoplasia involving the nose Abnormality of dental enamel Macrocephaly Generalized hypotonia Muscular hypotonia Hypoglycemia Fused teeth Cystic hygroma Mesomelia Short long bone Short ribs Delayed puberty Bowing of the long bones Limb undergrowth Prematurely aged appearance Abnormality of the voice Underdeveloped supraorbital ridges Alopecia Thin skin Abnormality of the face Fine hair Eczema Nail dysplasia Ectodermal dysplasia Abnormality of the elbow Oral cleft Clinodactyly of the 5th finger Hypotrichosis Sparse scalp hair Finger syndactyly Open mouth Postaxial hand polydactyly Abnormality of the skull Abnormality of the endocrine system Abnormality of the pinna Blepharophimosis Arthrogryposis multiplex congenita Camptodactyly Facial palsy Autism Smooth philtrum Stage 5 chronic kidney disease Full cheeks Narrow forehead Elevated hepatic transaminase Cholestasis Left ventricular hypertrophy Rhizomelia Talipes equinovarus Hepatic fibrosis Dysphagia Hyperbilirubinemia Narrow palpebral fissure Sparse eyelashes Skeletal muscle atrophy Plagiocephaly Visual impairment Proteinuria Retrognathia Hypogonadotrophic hypogonadism Aplasia/Hypoplasia of the tongue Cranial nerve paralysis Mask-like facies Multiple cafe-au-lait spots Aplasia/Hypoplasia of the thumb Aplasia/Hypoplasia of the radius Blepharitis Abnormality of the ulna Breast aplasia Absent hand Abnormality of the sense of smell Aplasia/Hypoplasia involving the metacarpal bones Aplasia of the pectoralis major muscle Polyhydramnios Hypertension Hepatomegaly Anteverted nares Short neck Splenomegaly Hyperhidrosis Cutis laxa Patent ductus arteriosus Ophthalmoplegia Rod-cone dystrophy Upslanted palpebral fissure Acidosis Pectus excavatum Chronic kidney disease Widely spaced teeth Poor appetite Insulin resistance Congenital hip dislocation Nephrocalcinosis Short chin Opacification of the corneal stroma Prominent supraorbital ridges Lipodystrophy Radial deviation of finger Hyperglycemia Glucose intolerance Congenital glaucoma Reduced subcutaneous adipose tissue Lipoatrophy Abnormality of the immune system Megalocornea Abnormality of the skin Abnormal anterior chamber morphology Hypoplastic facial bones Birth length less than 3rd percentile Enlarged epiphyses Rieger anomaly Abnormality of the mandible Narrow naris Excessive wrinkled skin Insulin-resistant diabetes mellitus Dimple chin Abnormal pupil morphology Premature skin wrinkling Increased intraocular pressure Hypoplasia of the iris Posterior embryotoxon Decreased body weight Underdeveloped nasal alae Lymphoid interstitial pneumonia Microcephaly Patent foramen ovale Preaxial polydactyly Sparse eyebrow Nephronophthisis Cutaneous finger syndactyly Polysplenia High anterior hairline Biliary cirrhosis Cholangitis Cloverleaf skull Bile duct proliferation Portal fibrosis Horizontal ribs Metopic synostosis Nystagmus Dental malocclusion Small for gestational age Triangular face Microcornea Downturned corners of mouth Short palm Joint hypermobility Hip dislocation Macrotia Cataract Weight loss Glaucoma Diabetes mellitus Depressivity Malar flattening Myopia Ptosis Prominent nasal bridge Delayed menarche Diastema Optic atrophy Synophrys Highly arched eyebrow Short metacarpal Freckling Short metatarsal Deep philtrum Abnormality of the hand Radioulnar synostosis Tarsal synostosis Abnormality of digit Carpal synostosis Short hallux Hitchhiker thumb Ectrodactyly Talon cusp Abnormality of dental morphology Melanocytic nevus Respiratory insufficiency Dermal atrophy Oligodontia Hypospadias Conjunctivitis Cleft lip Finger clinodactyly Abnormality of the nail Skin ulcer Micromelia Hepatic failure Hypoplastic nipples Alopecia of scalp Short distal phalanx of finger Thin upper lip vermilion Premature loss of permanent teeth Conical incisor Lacrimal duct atresia Feeding difficulties Nail pits Lacrimal duct stenosis Fingernail dysplasia Toenail dysplasia Nasolacrimal duct obstruction Constipation Posteriorly rotated ears Breast hypoplasia Coarse facial features Absent nipple Split foot Wide mouth Sparse axillary hair Abnormal cardiac septum morphology Generalized hypopigmentation Hypermetropia Thick eyebrow Wide nose Otitis media Recurrent otitis media Arnold-Chiari malformation Trigonocephaly Fair hair Sagittal craniosynostosis Small pituitary gland Pulmonary hypoplasia Postaxial polydactyly Immune dysregulation Cognitive impairment Hyperthyroidism Central hypotonia Turricephaly Shallow orbits Coronal craniosynostosis Communicating hydrocephalus Vertebral compression fractures Severe hydrops fetalis Multiple suture craniosynostosis Crumpled long bones Orbital craniosynostosis Seizures Neoplasm Respiratory distress Nail dystrophy Diarrhea Recurrent infections Obesity Pneumonia Growth hormone deficiency Progressive visual loss Abnormal lung morphology Chronic diarrhea Lymphopenia Adermatoglyphia Keratitis External genital hypoplasia Proportionate short stature Concave nasal ridge Pathologic fracture Increased susceptibility to fractures Ascites Wide intermamillary distance Renal hypoplasia Split hand Inflammatory abnormality of the skin Cutaneous photosensitivity Polycystic kidney dysplasia Aplasia/Hypoplasia of the eyebrow Thoracic hypoplasia Agenesis of permanent teeth Hypoplastic scapulae Flat acetabular roof Thoracic dysplasia Bilateral postaxial polydactyly Short lingual frenulum Short uvula Wormian bones Scoliosis Dry skin Anal atresia Hydrocephalus Kyphosis Proptosis Osteopenia Skeletal dysplasia Toe syndactyly Bruising susceptibility Recurrent fractures Abnormality of the ribs Abnormal form of the vertebral bodies Abnormality of the metaphysis Abnormality of the zygomatic bone



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