Anemia, and Hypodontia

Diseases related with Anemia and Hypodontia

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


Top matches:

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 CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME


Craniofacial dysplasia-osteopenia syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.

CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME Is also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility|hamamy syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Cryptorchidism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME

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

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Other less relevant matches:

Medium match AARSKOG-SCOTT SYNDROME; AAS


Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about AARSKOG-SCOTT SYNDROME; AAS

Medium match DYSKERATOSIS CONGENITA


Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Medium match FAMILIAL BENIGN CHRONIC PEMPHIGUS


Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

Medium match ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS


Autosomal recessive Robinow syndrome is a severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia (summary by van Bokhoven et al., 2000). Genetic Heterogeneity of Robinow SyndromeSee also autosomal dominant Robinow syndrome-1 (DRS1 ), caused by mutation in the WNT5A gene (OMIM ) on chromosome 3p; DRS2 (OMIM ), caused by mutation in the DVL1 gene (OMIM ) on chromosome 1p36; and DRS3 (OMIM ), caused by mutation in the DVL3 gene (OMIM ) on chromosome 3q27.

ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS Is also known as costovertebral segmentation defect with mesomelia, formerly|covesdem syndrome, formerly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS

Low match KABUKI SYNDROME 1; KABUK1


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). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Low match TOOTH AGENESIS, SELECTIVE, 1; STHAG1


Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see {114600} and {302400}.Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978). Genetic Heterogeneity of Selective Tooth AgenesisOther forms of selective tooth agenesis include STHAG2 (OMIM ), mapped to chromosome 16q12; STHAG3 (OMIM ), caused by mutation in the PAX9 gene (OMIM ) on chromosome 14q12; STHAG4 (OMIM ), caused by mutation in the WNT10A gene (OMIM ) on chromosome 2q35; STHAG5 (OMIM ), mapped to chromosome 10q11; STHAG7 (OMIM ), caused by mutation in the LRP6 gene (OMIM ) on chromosome 12p13; STHAG8 (OMIM ), caused by mutation in the WNT10B gene (OMIM ) on chromosome 12q13; STHAG9 (OMIM ), caused by mutation in the GREM2 gene (OMIM ) on chromosome 1q43; and STHAGX1 (OMIM ), caused by mutation in the EDA gene (OMIM ) on chromosome Xq13.A type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS ).Of 34 unrelated patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. Genotype-Phenotype CorrelationsYu et al. (2016) observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.

TOOTH AGENESIS, SELECTIVE, 1; STHAG1 Is also known as hyd1|hypodontia/oligodontia 1|second premolars and third molars, absence of|tooth agenesis, familial

Related symptoms:

  • Short stature
  • Abnormality of the dentition
  • Hypodontia
  • Oligodontia
  • Reduced number of teeth


SOURCES: OMIM MENDELIAN

More info about TOOTH AGENESIS, SELECTIVE, 1; STHAG1

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Top 5 symptoms//phenotypes associated to Anemia and Hypodontia

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

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

Uncommon Symptoms - Between 30% and 50% cases


Brachydactyly Global developmental delay Hearing impairment Abnormality of the dentition Wide nasal bridge Clinodactyly Neoplasm Growth delay Hypertelorism Strabismus Cleft palate Ventricular septal defect Alopecia Short nose Anteverted nares Pectus excavatum Dental malocclusion Short palm Hernia Inguinal hernia Pain Osteoporosis Growth hormone deficiency Abnormality of the skeletal system Midface retrusion Kyphosis Frontal bossing Abnormal vertebral morphology Intellectual disability, mild Skeletal dysplasia Short neck Flexion contracture Hepatomegaly Hypoplasia of the maxilla

Rare Symptoms - Less than 30% cases


Abnormal heart morphology Abdominal pain Umbilical hernia Depressivity Obesity Recurrent fractures Blue sclerae Prominent nose Abnormality of the fingernails Small nail Downslanted palpebral fissures Hypertension Ptosis Failure to thrive Seizures Flat face Delayed eruption of permanent teeth Small face Pes planus Agenesis of permanent teeth Ridged nail Short foot Joint laxity Severe short stature Premature graying of hair Wide nose Abnormal cardiac septum morphology Hydronephrosis Skin vesicle Micropenis Posteriorly rotated ears Abnormal facial shape Neoplasm of the skin Anorectal anomaly Increased number of teeth Feeding difficulties Congenital hip dislocation Diarrhea Microdontia Small hand Dermal atrophy Long eyelashes Pulmonic stenosis Broad philtrum Cirrhosis Joint hypermobility Polymicrogyria Carious teeth Single transverse palmar crease Radial deviation of finger Short 5th finger Microcephaly Nail dysplasia Cataract Intrauterine growth retardation Immunodeficiency Hyperkeratosis Sparse hair Nail dystrophy Malabsorption Long palpebral fissure Delayed eruption of teeth Anal atresia High palate Short toe Myopia Atrial septal defect Sensorineural hearing impairment Long philtrum Syndactyly Brachycephaly Low-set ears Kyphoscoliosis Macrocephaly Hyperlordosis Splenomegaly Wide mouth Malar flattening Mandibular prognathia Hepatosplenomegaly Craniosynostosis Proptosis Sclerosing cholangitis Disproportionate short-limb short stature Limb undergrowth Delayed cranial suture closure Ambiguous genitalia Wide anterior fontanel Hemivertebrae Broad thumb Gingival overgrowth Crossed fused renal ectopia Dental crowding Single ventricle Cupped ear Vertebral clefting Mesomelia Prominent fingertip pads Ureteropelvic junction obstruction Diaphragmatic eventration Bronchomalacia Biliary atresia Short middle phalanx of the 5th finger Vaginal atresia Rib fusion Bifid tongue Hypoplastic labia majora Recurrent aspiration pneumonia External genital hypoplasia Missing ribs Abnormality of the middle ear Epibulbar dermoid Thoracolumbar scoliosis Double outlet right ventricle Nevus flammeus Macroglossia Common atrium Vertebral fusion Liver abscess Pilonidal sinus Prominent eyelashes Squamous cell carcinoma Osteosarcoma Absent radius Proportionate short stature Aplasia/Hypoplasia of the thumb Anteriorly placed anus Congenital mitral stenosis Oligodontia Absent thumb Basal cell carcinoma Pyloric stenosis Concave nasal ridge Reduced number of teeth Sarcoma Short thumb Telangiectasia Short palpebral fissure Cutaneous photosensitivity Microcornea Hypopigmentation of the skin Anodontia Poikiloderma Rectovaginal fistula Premature thelarche Depressed nasal bridge Confusion Eversion of lateral third of lower eyelids Short nasal septum Recurrent ear infections Thin upper lip vermilion Retrognathia Vertical orbital dystopia Nocturnal lagophthalmos Delayed skeletal maturation Anoperineal fistula Patellar aplasia Forearm reduction defects Zonular cataract Bilateral radial aplasia Juvenile cataract Annular pancreas Duodenal stenosis Iris atrophy Aplasia/Hypoplasia of the patella Skin erosion Acantholysis Normocytic anemia Thoracic hemivertebrae Clitoral hypoplasia Autoimmunity Celiac disease Intestinal malrotation Highly arched eyebrow Hemolytic anemia Hirsutism Astigmatism Severe hearing impairment Transposition of the great arteries Coloboma Otitis media Paralysis Cerebellar vermis atrophy Protruding ear Respiratory tract infection Abnormality of the pinna Postnatal growth retardation Autoimmune hemolytic anemia Abnormality of the kidney Intellectual disability, moderate Decreased antibody level in blood Congenital diaphragmatic hernia Thyroiditis Abnormal dermatoglyphics Precocious puberty Preauricular pit Brittle hair Hydroureter Failure to thrive in infancy Bundle branch block Poor suck Abnormality of the urinary system Purpura Coarctation of aorta Hyperbilirubinemia Horseshoe kidney Increased body weight Right bundle branch block Sparse and thin eyebrow Cafe-au-lait spot Renal dysplasia Heterotopia Recurrent otitis media Congenital hypothyroidism IgA deficiency Renal duplication Duplication of the distal phalanx of hand Renal insufficiency Epicanthus Muscular hypotonia Generalized hypotonia Cervical agenesis Right atrial isomerism Right ventricular outlet obstruction Bifid distal phalanx of toe Trichorrhexis nodosa Recurrent infections Absent uvula Hypoplastic sacrum Bilateral cryptorchidism Anterior plagiocephaly Aplasia/Hypoplasia involving the metacarpal bones Forearm undergrowth Broad toe Mesomelic short stature Triangular mouth Dilatation Hypospadias Autoimmune thrombocytopenia Depressed nasal tip Anal stenosis Hashimoto thyroiditis Overweight Scaphocephaly Anxiety Vitiligo Patellar dislocation Short columella Hypoglycemia Patent ductus arteriosus Retinal coloboma Mitral stenosis Optic nerve coloboma Jaundice Macrotia Hypothyroidism Pneumonia Visual loss Cholangitis Feeding difficulties in infancy Epiphora Hip dislocation Abnormality of the skin Sleep apnea Osteolysis Narrow palate Wormian bones Abnormality of the nail Increased bone mineral density Bone pain Abnormality of epiphysis morphology Abnormality of the face Postural instability Increased susceptibility to fractures Short distal phalanx of finger Narrow chest Apnea High forehead Prominent forehead Hydrocephalus Cognitive impairment Short 2nd finger Hypochromic anemia Abnormality of pelvic girdle bone morphology Back pain Moderate global developmental delay Persistence of primary teeth Hyperactivity Behavioral abnormality Abnormal pelvis bone ossification Persistent open anterior fontanelle Osteolytic defects of the distal phalanges of the hand Spondylolysis Snoring Absent frontal sinuses Delayed eruption of primary teeth Abnormal pattern of respiration Abnormality of the thorax Low back pain Spondylolisthesis Osteolytic defects of the phalanges of the hand Osteopetrosis Abnormality of the clavicle Abnormality of the vertebral column Prominent occiput Osteomyelitis Abnormality of dental morphology Long toe Sparse lateral eyebrow Attention deficit hyperactivity disorder Metaphyseal irregularity Small epiphyses Hypoplastic ilia Ovoid vertebral bodies Thoracic kyphosis Metaphyseal dysplasia Disproportionate short stature Short finger Flared metaphysis Rocker bottom foot Metaphyseal widening Hypoplasia of the capital femoral epiphysis Elbow flexion contracture Aortic valve stenosis Rhizomelia Lumbar hyperlordosis Hypotelorism Tetraplegia Hypotrichosis Platyspondyly Respiratory insufficiency Delayed ossification of carpal bones Shallow acetabular fossae Down-sloping shoulders Tapered finger Hypoparathyroidism Microcytic anemia Preauricular skin tag Hypoplasia of dental enamel Mitral regurgitation Low posterior hairline High myopia Hip dysplasia Webbed neck Smooth philtrum J-shaped sella turcica Developmental regression Osteopenia Upslanted palpebral fissure Dysphagia Hypoplastic iliac body Cervical subluxation Cervical cord compression Broad phalanx Atlantoaxial dislocation Camptodactyly Hypermetropia Corneal opacity Neoplasm of the pancreas Cellular immunodeficiency Abnormality of female internal genitalia Aplastic anemia Oral leukoplakia Abnormality of the testis White hair Periodontitis Taurodontia Abnormal eyebrow morphology Blepharitis Abnormality of the pharynx Abnormal eyelash morphology Premature loss of teeth Aseptic necrosis Telangiectasia of the skin Aplasia/Hypoplasia of the skin Macule Neurofibromas Hypermelanotic macule Abnormality of coagulation Testicular atrophy Squamous cell carcinoma of the skin Tracheoesophageal fistula Esophageal stenosis Small for gestational age Skin rash Erythema Glaucoma Hypogonadism Microphthalmia Vomiting Talipes equinovarus Absent lacrimal punctum Palmar hyperkeratosis Urethral stenosis Displacement of the external urethral meatus Congenital bullous ichthyosiform erythroderma Reticular hyperpigmentation Nail pits Rough bone trabeculation Porokeratosis Aplastic/hypoplastic toenail Interstitial pneumonitis Abnormality of neutrophils Pulmonary fibrosis Myelodysplasia Delayed puberty Shawl scrotum Frontoparietal polymicrogyria Osteochondritis Dissecans Hyperextensibility of the finger joints Volvulus Large earlobe Widow's peak Genu recurvatum Broad foot Hypoplasia of the odontoid process Macrocytic anemia Increased upper to lower segment ratio Broad palm Interstitial pulmonary abnormality Mild short stature Increased intracranial pressure Lymphedema Abnormality of the genital system Generalized-onset seizure Round face Cleft upper lip Prominent umbilicus Curved linear dimple below the lower lip Hypopigmented skin patches Abnormal blistering of the skin Abnormal intestine morphology Bone marrow hypocellularity Lymphopenia Skin ulcer Hepatic fibrosis Hyperpigmentation of the skin Pancytopenia Cerebral calcification Specific learning disability Lymphoma Cervical spine hypermobility Palmoplantar keratoderma Hepatic failure Abnormality of skin pigmentation Leukemia Diabetes mellitus Hyperhidrosis Recurrent respiratory infections Cerebellar hypoplasia Thrombocytopenia Ataxia Selective tooth agenesis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Short palpebral fissure, related diseases and genetic alterations Intrauterine growth retardation and Congenital cataract, related diseases and genetic alterations Hepatomegaly and Ambiguous genitalia, related diseases and genetic alterations Myopathy and Amenorrhea, related diseases and genetic alterations Peripheral neuropathy and Cutaneous photosensitivity, related diseases and genetic alterations

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