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Gene: Tent5a MGI:2670964

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Gene Summary

Name:
terminal nucleotidyltransferase 5A
Synonyms:
Fam46a,  D930050G01Rik,  BAP014

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal pelvic girdle bone morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 1.03×10-13
increased neutrophil cell number Tent5aem1(IMPC)Ccpcz HOM Early adult 1.87×10-09
increased monocyte cell number Tent5aem1(IMPC)Ccpcz HOM Early adult 1.56×10-09
increased circulating potassium level Tent5aem1(IMPC)Ccpcz HOM Early adult 1.07×10-05
abnormal scapula morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 3.82×10-11
abnormal mandible morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 3.84×10-11
abnormal femur morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 7.95×10-10
scoliosis Tent5aem1(IMPC)Ccpcz HOM Early adult 4.35×10-05
decreased lymphocyte cell number Tent5aem1(IMPC)Ccpcz HOM Early adult 1.32×10-10
abnormal gait Tent5aem1(IMPC)Ccpcz HOM Early adult 7.12×10-14
abnormal radius morphology Tent5aem1(IMPC)Ccpcz HOM   Early adult 5.66×10-07
thrombocytosis Tent5aem1(IMPC)Ccpcz HOM Early adult 3.10×10-06
increased circulating alkaline phosphatase level Tent5aem1(IMPC)Ccpcz HOM Early adult 0.00
decreased locomotor activity Tent5aem1(IMPC)Ccpcz HOM   Early adult 1.75×10-06
short tibia Tent5aem1(IMPC)Ccpcz HOM Early adult 1.34×10-05
abnormal bone structure Tent5aem1(IMPC)Ccpcz HOM Early adult 0.00
decreased circulating serum albumin level Tent5aem1(IMPC)Ccpcz HOM Early adult 5.39×10-07
increased granulocyte number Tent5aem1(IMPC)Ccpcz HOM Early adult 1.34×10-07
abnormal fibula morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 8.75×10-07
decreased body weight Tent5aem1(IMPC)Ccpcz HOM Early adult 2.24×10-09
abnormal tooth morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal cranium morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 3.54×10-08
abnormal humerus morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 1.84×10-13
abnormal joint morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 2.09×10-09
abnormal rib morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 4.16×10-13
decreased respiratory quotient Tent5aem1(IMPC)Ccpcz HOM Early adult 1.30×10-09
impaired righting response Tent5aem1(IMPC)Ccpcz HOM Early adult 3.52×10-07
abnormal spine curvature Tent5aem1(IMPC)Ccpcz HOM   Early adult 1.96×10-06
increased freezing behavior Tent5aem1(IMPC)Ccpcz HOM Early adult 1.05×10-23
decreased Ly6C-positive mature NK cell number Tent5aem1(IMPC)Ccpcz HOM   Early adult 2.92×10-05
increased anxiety-related response Tent5aem1(IMPC)Ccpcz HOM   Early adult 1.30×10-05
enhanced cued conditioning behavior Tent5aem1(IMPC)Ccpcz HOM Early adult 7.69×10-06
abnormal ulna morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 3.82×10-11
decreased circulating glucose level Tent5aem1(IMPC)Ccpcz HOM   Early adult 9.76×10-05
increased leukocyte cell number Tent5aem1(IMPC)Ccpcz HOM Early adult 5.14×10-05
decreased exploration in new environment Tent5aem1(IMPC)Ccpcz HOM Early adult 1.15×10-12
abnormal tibia morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 6.33×10-09

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Hind Leg and Hip

30 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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ALTERNATIVE - X-ray

ALTERNATIVE - XRay Images Hind Leg and Hip

2 Images

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ALTERNATIVE - X-ray

ALTERNATIVE - XRay Images Forepaw

1 Images

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ALTERNATIVE - X-ray

ALTERNATIVE - XRay Images Skull Dorso Ventral Orientation

1 Images

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ALTERNATIVE - X-ray

ALTERNATIVE - XRay Images Whole Body Dorso Ventral

2 Images

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ALTERNATIVE - X-ray

ALTERNATIVE - XRay Images Skull Lateral Orientation

1 Images

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ALTERNATIVE - X-ray

ALTERNATIVE - XRay Images Whole Body Lateral Orientation

1 Images

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Human diseases caused by Tent5a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Tent5a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Thin... OMIM:617952

The table below shows human diseases predicted to be associated to Tent5a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lactate Dehydrogenase B Deficiency
Reduced lactate dehydrogenase B level OMIM:614128
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal circulating enzyme concentration or activity OMIM:125460
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Enlarged epiphyses, Proximal placement of thumb, Flexion contracture, Coxa vara, Pectus carinatum... OMIM:613330
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral bowing, Tib... OMIM:223800
Thoracomelic Dysplasia
Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Jo... ORPHA:1803
Smith-Mccort Dysplasia 1
Short phalanx of finger, Genu varum, Barrel-shaped chest, Waddling gait, Short metacarpal, Iliac ... OMIM:607326
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... ORPHA:168549
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Severe short stature, Wid... OMIM:619598
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Short stature, Broa... OMIM:616716
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Short stature, Microcephaly, Delayed skeletal maturation, Abnormality of the e... ORPHA:3268
Schneckenbecken Dysplasia
Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Advanced tarsal ... OMIM:269250
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... OMIM:600121
Solitary Bone Cyst
Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone cyst, Abnor... ORPHA:83468
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Short stature, Lumbar hy... OMIM:602471
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri... OMIM:617405
Osteochondrosis Of The Tarsal Bone
Antalgic gait, Foot pain, Pedal edema, Arthritis, Tarsal sclerosis, Tarsal stippling, Ankle pain,... ORPHA:563991
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Smith-Mccort Dysplasia 2
Short metatarsal, Pectus carinatum, Short phalanx of finger, Barrel-shaped chest, Short metacarpa... OMIM:615222
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar... OMIM:609052
Pelviscapular Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Short femur, Short stature, Hypoplastic ilia, H... ORPHA:93333
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... OMIM:187601
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase OMIM:254700
Arthrogryposis, Distal, Type 1A
Congenital hip dislocation, Single transverse palmar crease, Calcaneovalgus deformity, Knee flexi... OMIM:108120
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costoch... OMIM:187600
Mueller-Weiss Syndrome
Edema of the dorsum of feet, Knee osteoarthritis, Positional foot deformity, Fragmented, irregula... ORPHA:566943
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror... ORPHA:2019
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... OMIM:210720
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ... OMIM:228520
Osebold-Remondini Syndrome
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... OMIM:112910
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... ORPHA:93296
Congenital Vertical Talus
Pes planus, Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Achilles te... ORPHA:178382
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... ORPHA:85166
Campomelic Dysplasia
Micrognathia, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia, Poorly ossi... ORPHA:140
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... ORPHA:53697
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Squared il... OMIM:215045
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Narrow chest, Neonatal short-limb short stature, Severe limb shortening, Radial bowin... OMIM:151210
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Thin ribs... OMIM:300863
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han... OMIM:200600
Spondylometaphyseal Dysplasia, Corner Fracture Type
Waddling gait, Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa va... OMIM:184255
Dysplasia Of Head Of Femur, Meyer Type
Waddling gait, Multicentric femoral head ossification, Congenital hip dislocation, Antalgic gait,... ORPHA:168621
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Elevated circulat... OMIM:615198
Spondyloepimetaphyseal Dysplasia, Irapa Type
Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin... ORPHA:93351
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... OMIM:250420
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Three M Syndrome 1
Joint dislocation, Increased vertebral height, Clinodactyly of the 5th finger, Spina bifida occul... OMIM:273750
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... OMIM:311300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Ab... ORPHA:163966
Femoral-Facial Syndrome
Short femur, Short stature, Micrognathia, Cryptorchidism, Long penis, Abnormal rib morphology, Ri... ORPHA:1988
Eiken Syndrome
Delayed epiphyseal ossification, Limited elbow flexion, Short palm, Abnormal bone ossification, S... ORPHA:79106
Spondyloepimetaphyseal Dysplasia, Shohat Type
Micromelia, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch, Vertebral h... OMIM:602557
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Lateral ... ORPHA:3144
Cleidocranial Dysplasia
Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger,... ORPHA:1452
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Thoracic platyspondyly, Metaphyseal widening, Squared iliac bones, Short long bone... OMIM:618961
Bent Bone Dysplasia Syndrome 2
Osteopenia, Femoral bowing, Hypoplastic iliac wing, Short tibia, Micropenis, Ulnar bowing, Corona... OMIM:620076
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... OMIM:600081
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Abnormality of the han... ORPHA:1842
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Short stature, Micromelia, Wide distal femoral metaphysis, Postnatal growt... OMIM:613320
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Hypoplasia of penis, Short stature, Micromelia, Microcephaly, Postaxial hand polyd... ORPHA:2491
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Three M Syndrome 3
Short stature, Hyperlordosis, Microcephaly, Increased vertebral height, Short thorax, Growth dela... OMIM:614205
Fibrochondrogenesis
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Wide anterior fontanel,... ORPHA:2021
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Short stature, Lateral clavicle h... OMIM:171480
Fibrochondrogenesis 2
Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti... OMIM:614524
Kyphomelic Dysplasia
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ... OMIM:211350
Bowen-Conradi Syndrome
Short stature, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Joint stiffness, Crypto... ORPHA:1270
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... OMIM:224300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Flexion contracture, Micropen... OMIM:616897
Hypophosphatasia, Childhood
Waddling gait, Short stature, Craniosynostosis, Bowing of the legs, Low alkaline phosphatase, Rac... OMIM:241510
Cousin Syndrome
Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous genitalia, male... OMIM:260660
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Vertebral hypoplas... OMIM:108720
Bruck Syndrome 1
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... OMIM:259450
Three M Syndrome 2
Relative macrocephaly, Scapular winging, Severe short stature, Short stature, Lumbar hyperlordosi... OMIM:612921
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Micrognathia, Reduced bone mineral density, Increased head circumference,... ORPHA:94068
Monosomy 5P
Microretrognathia, Finger syndactyly, Short stature, Recurrent fractures, Microcephaly, Small han... ORPHA:281
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Microcephaly, Cryptorchidism, D... OMIM:612447
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... ORPHA:2141
Epiphyseal Dysplasia, Multiple, 1
Delayed epiphyseal ossification, Generalized joint laxity, Irregular vertebral endplates, Short p... OMIM:132400
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Barrel-shaped chest, Increased bone mineral density, Short humerus, Bowing of the lon... OMIM:239000
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Micrognathia, Hemivertebrae, Pectus carinatum, Hypoplasia of the ul... ORPHA:958
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Arthrogryposis, Distal, Type 2B1
Ulnar deviation of the wrist, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Metatars... OMIM:601680
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Thickened ribs, Short stature, Cortical sclerosis, Craniofacial osteos... OMIM:122860
Achondroplasia
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase OMIM:242880
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Waddling gait, Micro... OMIM:156400
Hypophosphatasia, Infantile
Craniosynostosis, Bowing of the legs, Micromelia, Vertebral clefting, Low alkaline phosphatase, I... OMIM:241500
Digitotalar Dysmorphism
Rocker bottom foot, Mild short stature, Camptodactyly of finger, Ulnar deviation of finger OMIM:126050
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ... ORPHA:2831
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Pectus excavatum, Kyphosis, Pectus... OMIM:259440
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... ORPHA:2501
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Arthrogryposis, Distal, Type 11
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... OMIM:620019
Osteogenesis Imperfecta, Type Xix
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus exc... OMIM:301014
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli... OMIM:614091
Larsen-Like Syndrome
Joint laxity, Joint dislocation, Short stature, Kyphoscoliosis, Wide anterior fontanel, Delayed s... OMIM:608545
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Coxa vara, Arthralgia of the hip, Waddling gait, Lumbar hyperlordosis, Short stature, Short femor... ORPHA:99642
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... OMIM:119600
Greenberg Dysplasia
Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine... OMIM:215140
Omodysplasia 2
Short humerus, Hypospadias, Micrognathia, Cryptorchidism, Anterior wedging of T11, Uterus didelph... OMIM:164745
Seckel Syndrome 4
11 pairs of ribs, Severe short stature, Microcephaly, Steep acetabular roof, Intrauterine growth ... OMIM:613676
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... ORPHA:750
Bowen-Conradi Syndrome
Rocker bottom foot, Microcephaly, Micrognathia, Abnormal joint morphology, Clinodactyly of the 5t... OMIM:211180
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micrognathia, Equin... OMIM:224400
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Rhizomelia, Micrognathia, Microcephaly, Flexion contracture, Dispropor... OMIM:222765
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... OMIM:114290
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... OMIM:241530
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyporeflexia of lower limbs, Broad-based gait, Hyperlordosis, Calcaneovalgus deformity, Areflexia... OMIM:162370
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... ORPHA:2779
Achondrogenesis, Type Ib
Micromelia, Hypoplastic ilia, Narrow chest, Short ribs, Absent or minimally ossified vertebral bo... OMIM:600972
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Severe short stature, Microcephaly, Intrauterine growth retar... OMIM:618724
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... OMIM:147891
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, External genital hypoplasia, Micrognathia, Generalized joint laxity, Tibial bowing, C... ORPHA:251028
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Crane-Heise Syndrome
Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Hypoplasi... ORPHA:1512
Metatropic Dysplasia
Severe short stature, Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral o... ORPHA:2635
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Micromelia, Proximal placement of thumb, Microgn... ORPHA:628
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Narrow chest, Short phalanx of finger, Broad metacar... ORPHA:56304
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Pes planus, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa ... OMIM:619131
Osteogenesis Imperfecta, Type X
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... OMIM:613848
Autosomal Dominant Omodysplasia
Bifid scrotum, Short humerus, Hypoplasia of penis, Rhizomelia, Micrognathia, Elbow dislocation, C... ORPHA:93328
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic notch, Short p... OMIM:250220
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... OMIM:259420
Pallister-Hall-Like Syndrome
Toe syndactyly, Short stature, Micromelia, Micrognathia, Microcephaly, Postaxial hand polydactyly... OMIM:241800
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Short stature, Abnormal rib morphology, Macrocephaly, Diaphyseal thick... ORPHA:1513
Neonatal Severe Primary Hyperparathyroidism
Narrow chest, Abnormal metaphysis morphology, Recurrent fractures, Short stature ORPHA:417
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... ORPHA:1860
Prieto Syndrome
11 pairs of ribs, Coxa valga, Cryptorchidism, Osteoporosis, Patellar subluxation, Talipes equinov... OMIM:309610
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S... OMIM:200610
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... OMIM:602196
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Crumpled long bones, Waddling gait, Short stature, Isosexual precocious... ORPHA:2788
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Increased iduronate sulfatase level, Short statur... OMIM:252600
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Severe short stature, Micromelia, Bowing of the legs, Hypoplastic ilia, Microgn... ORPHA:1865
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Beaded ribs, Multiple ... OMIM:166210
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r... OMIM:173800
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Maternal diabetes, Abnormality of t... ORPHA:1570
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Flexion contracture, Femoral bowing, Abnormal ovarian morphology, Narrow ches... ORPHA:95699
Immunodeficiency 27A
Hypoplasia of the femoral head, Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight ... OMIM:209950
Hypocalcemic Vitamin D-Dependent Rickets
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Deformed rib cag... ORPHA:289157
Osteoglophonic Dysplasia
Osteopenia, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacar... OMIM:166250
Grant Syndrome
Joint dislocation, Bowing of the long bones, Short stature, Micrognathia, Abnormal rib morphology... ORPHA:2097
Brachyolmia Type 1, Hobaek Type
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... OMIM:271530
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr... OMIM:600920
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis OMIM:618155
Weaver Syndrome
Short fourth metatarsal, Single transverse palmar crease, Accelerated skeletal maturation, Calcan... OMIM:277590
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Short stature, Lumbar hyperlordosis, Hypoplasti... OMIM:169550
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc... OMIM:608728
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Missing ribs, Postaxial polydactyly, ... OMIM:617866
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Cone-shaped epiphyses of the ph... OMIM:615630
Bruck Syndrome 2
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu... OMIM:609220
Spondyloepimetaphyseal Dysplasia, Irapa Type
Waddling gait, Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis,... OMIM:271650
Acrorenal-Mandibular Syndrome
Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Bicorn... OMIM:200980
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Relative macrocephaly, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Latera... OMIM:617895
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... OMIM:264700
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Short stature, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Fe... OMIM:615503
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Dysplasia Epiphysealis Hemimelica
Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiff... ORPHA:1822
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... OMIM:613091
Holt-Oram Syndrome
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Abnormal vertebral morphol... OMIM:142900
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Pes planus, Wormian bones, Short stature, Re... OMIM:610967
Silver-Russell Syndrome
Micrognathia, Abnormal appendicular skeleton morphology, Clinodactyly of the 5th finger, Hypospad... ORPHA:813
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flexion contracture, Flat glenoid fossa, He... OMIM:224690
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... OMIM:609616
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... ORPHA:2790
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, A... ORPHA:1836
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration OMIM:606263
Mucolipidosis Ii Alpha/Beta
Osteopenia, Micrognathia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the o... OMIM:252500
Acrootoocular Syndrome
Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal finger flexion crease, Decrease... ORPHA:2980
Multiple Epiphyseal Dysplasia Type 1
Waddling gait, Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis... ORPHA:93308
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Abnor... ORPHA:3104
Hypocalcemic Vitamin D-Resistant Rickets
Joint dislocation, Short stature, Recurrent fractures, Osteomalacia, Abnormal thorax morphology, ... ORPHA:93160
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Pectus carinatum, Abnormal calcification of the car... OMIM:271665
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Short stature, Premature osteoarthritis, Coxa vara, Genu ... OMIM:607078
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Short stat... OMIM:609324
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase OMIM:162830
Pseudoachondroplasia
Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... OMIM:177170
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Multip... OMIM:619795
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... OMIM:277440
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Hip contracture, Micrognathia, Metatarsus adductus, Calcaneovalgus deformity, E... OMIM:616266
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, Kyphosis, Scoliosis ORPHA:79107
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis, Disproportionate... ORPHA:1354
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short toe, Abnormal long bone morphology, Growth delay, Abnormal pelvic girdle bone morphology, S... OMIM:259270
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... OMIM:602080
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... ORPHA:93314
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomelia, Recu... OMIM:616229
Craniometadiaphyseal Dysplasia
Osteopenia, Broad long bones, Short stature, Coxa valga, Cubitus valgus, Wide anterior fontanel, ... OMIM:269300
Lethal Congenital Contracture Syndrome Type 1
Short stature, Recurrent fractures, Micrognathia, Limitation of joint mobility, Abnormal rib morp... ORPHA:1486
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Coxa vara, Pectus carinatum, Halberd-shaped... OMIM:184252
Arthrogryposis, Distal, Type 5D
Congenital hip dislocation, Short stature, Limited elbow movement, Micrognathia, Limited knee fle... OMIM:615065
Melnick-Needles Syndrome
Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Narrow chest, Cone-shaped ... OMIM:309350
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... ORPHA:166011
Ellis-Van Creveld Syndrome
Hypospadias, Capitate-hamate fusion, Postaxial hand polydactyly, Epispadias, Cryptorchidism, Pect... OMIM:225500
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... OMIM:308050
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Short stature, Recurrent fractures, Femoral bowing, Increased susceptibility to fract... OMIM:615066
Spondyloepimetaphyseal Dysplasia, Missouri Type
Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bo... OMIM:602111
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th... OMIM:250460
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... OMIM:618022
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Rocker bottom foot, Micrognathia, Cryptorchidism, Kyphosis, Camptodactyly, Arth... OMIM:618393
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Atelosteogenesis Type I
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... ORPHA:1190
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Short stature, Flat capit... OMIM:226900
Hyperparathyroidism, Transient Neonatal
Osteopenia, Wide cranial sutures, Short femur, Recurrent fractures, Metaphyseal spurs, Undulate r... OMIM:618188
Juvenile Paget Disease
Abnormal clavicle morphology, Bowing of the long bones, Short stature, Recurrent fractures, Crani... ORPHA:2801
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... ORPHA:2756
Achondrogenesis Type 1A
Multiple rib fractures, Severe short stature, Recurrent fractures, Micromelia, Abnormal enchondra... ORPHA:93299
Hypophosphatasia
Bowing of the long bones, Short stature, Recurrent fractures, Craniosynostosis, Abnormal rib morp... ORPHA:436
Osteogenesis Imperfecta, Type Viii
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... OMIM:610915
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Rhizome... ORPHA:239
Familial Expansile Osteolysis
Bowing of the long bones, Bone pain, Osteolysis, Elevated circulating alkaline phosphatase concen... OMIM:174810
Distal Arthrogryposis Type 1
Rocker bottom foot, Camptodactyly of finger, Joint stiffness, Talipes, Ulnar deviation of finger,... ORPHA:1146
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Short 4th metacarpal, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae,... OMIM:118651
Progressive Pseudorheumatoid Arthropathy Of Childhood
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... ORPHA:1159
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Single transverse palmar crease, External genital hypoplasia, Micrognathia, Flexion contracture, ... ORPHA:96334
Albers-Schönberg Osteopetrosis
Joint dislocation, Osteomyelitis, Short stature, Recurrent fractures, Mandibular osteomyelitis, G... ORPHA:53
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures,... ORPHA:3409
X-Linked Intellectual Disability, Hedera Type
Pes planus, Inability to walk, Calcaneovalgus deformity, Unsteady gait, Dysmetria, Absent Achille... ORPHA:93952
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Small scrotum, Hypospadias, Cryptorchidism, H... OMIM:607143
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... OMIM:608940
Dystonia-Deafness Syndrome 1
Loss of ambulation, Kyphoscoliosis, Hypoplastic scapulae, Femoral retroversion OMIM:607371
Vertical Talus, Congenital
Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus OMIM:192950
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... ORPHA:429
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco... ORPHA:1145
Enthesitis-Related Juvenile Idiopathic Arthritis
Finger dactylitis, Abnormal thoracic spine morphology, Abnormal metacarpophalangeal joint morphol... ORPHA:85438
Osteosarcoma
Abnormal femoral metaphysis morphology, Increased circulating lactate dehydrogenase concentration... ORPHA:668
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Pes planus, Brachydactyly, Club-shaped proximal femur, Severe short stature, Anterior rib cupping... OMIM:184250
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly... ORPHA:166277
Meier-Gorlin Syndrome 3
Small scrotum, Micrognathia, Coxa vara, Patellar hypoplasia, Narrow chest, Micropenis, Genu varum... OMIM:613803
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ... ORPHA:50945
Codas Syndrome
Congenital hip dislocation, Proximal placement of thumb, Broad skull, Generalized joint laxity, S... OMIM:600373
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Short sta... OMIM:614856
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty... ORPHA:474
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... OMIM:150250
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... ORPHA:3329
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro... ORPHA:1350
Diaphanospondylodysostosis
Missing ribs, Short thorax, Enlarged thorax, Narrow pelvis bone, Absent or minimally ossified ver... ORPHA:66637
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Short stature, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis... OMIM:610968
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Hemivertebrae, Pectus ca... ORPHA:2911
Metaphyseal Anadysplasia
Bowing of the long bones, Short stature, Abnormal morphology of ulna, Joint stiffness, Abnormalit... ORPHA:1040
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Toe syndactyly, Elbow flexion contracture, 2-3 toe syndactyly, Short... OMIM:616809
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Arachnodactyly, Short stature, Ataxia, Micrognathia, Microcephaly, Flexion contracture, Calcaneov... ORPHA:562528
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, H... ORPHA:40
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Bowing of the legs, ... OMIM:613849
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Bowing of the legs, Flared metaphysis, Growth delay, Elevated circulating alkaline ph... OMIM:619073
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Coxa vara, Reduced bone mineral density, Pectus carinatum, Tibial bowing, Hypoplastic iliac wing,... ORPHA:93315
X-Linked Hypophosphatemia
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... ORPHA:89936
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Joint laxity, Pes planus, Genu recurvatum, Pectus excavatum, Calcaneovalgus deformity OMIM:225320
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Short stature, Lateral clavicle hook, Jaundice, Early ossification of cap... OMIM:208500
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Rocker bottom foot, Equinovarus deformity, Micrognathia, Microcephaly... ORPHA:3078
Ulna Metaphyseal Dysplasia Syndrome
Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Abnormal f... ORPHA:1837
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, Ri... OMIM:307800
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... OMIM:166260
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Pes planus, Joint dislocation, Sandal gap, Recurrent shoulder dislocation, Genu re... ORPHA:230851
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Multiple joint d... OMIM:618395
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino... OMIM:615923
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Bruck Syndrome
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor... ORPHA:2771
Combined Oxidative Phosphorylation Defect Type 39
Abnormal circulating enzyme concentration or activity, Microcephaly, Cryptorchidism, Congenital f... ORPHA:565624
Anauxetic Dysplasia 2
Relative macrocephaly, Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kypho... OMIM:617396
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... OMIM:249700
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Microcephaly, Delayed skeletal ... OMIM:617604
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Osteoarthritis, Coxa vara, Bilateral coxa valga, Arthralgia of the hip, Waddling gait, Genu varum... ORPHA:166002
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Hypoplastic scapulae, Bowing of the legs, Short toe, Short thorax, Broad pal... OMIM:269860
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... ORPHA:352540
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b... ORPHA:2878
Nail-Patella Syndrome
Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the lateral border o... OMIM:161200
Juberg-Hayward Syndrome
Toe syndactyly, Hypospadias, Severe short stature, Microcephaly, Short thumb, Hypoplasia of the r... ORPHA:2319
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Short stature, Proximal femoral metaphyseal irregularity, Dispr... OMIM:602271
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow m... OMIM:183900
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Recurrent fractures, Micromelia, Microcephaly, Cryptorchidism, Abnormal rib ... ORPHA:2772
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li... OMIM:147750
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Short stature, Kyphosco... OMIM:615349
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Thin... OMIM:617952
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... ORPHA:968
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... OMIM:618019
Alg6-Cdg
Ataxia, Decreased LDL cholesterol concentration, Shortening of all distal phalanges of the finger... ORPHA:79320
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical sclerosis, ... ORPHA:210110
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Short stature, Coxa valga, Hyperlordosis, Kyphosis, ... ORPHA:582
Arthrogryposis, Distal, Type 1B
Foot joint contracture, Rocker bottom foot, Distal arthrogryposis, Talipes equinovarus, Camptodac... OMIM:614335
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short stature, Micromelia, Hy... ORPHA:63446
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Relative macrocephaly, Rhizomelia, Postaxial polydactyly, Unicoronal synostosi... OMIM:616300
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Short stature, Kyphosis, Pectus carinatum, Reduced bone mineral density, Delayed o... OMIM:618392
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Waddling gait, Elevated alkaline phosphatase of bone origin, Osteomalacia, Short stature, Bowing ... ORPHA:157215
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Cooper-Jabs Syndrome
Short stature, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib m... ORPHA:1488
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Micropenis, Short s... OMIM:134780
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Femoral bowing, Elevated cir... OMIM:126550
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co... ORPHA:249
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Impaired di... OMIM:208920
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Knee dislocat... ORPHA:536532
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Short stature, Coxa valga, Micrognathia, Ani... ORPHA:2484
Occipital Horn Syndrome
Joint laxity, Short humerus, Pes planus, Persistent open anterior fontanelle, Pelvic bone exostos... OMIM:304150
Mycetoma
Abnormality of the knee, Osteomyelitis, Abnormality of the hand, Structural foot deformity, Abnor... ORPHA:2583
Camurati-Engelmann Disease
Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cort... ORPHA:1328
Chromosome 2P16.1-P15 Deletion Syndrome
Arachnodactyly, Short stature, Kyphoscoliosis, Microcephaly, Pectus excavatum, Metatarsus adductu... OMIM:612513
Eiken Syndrome
Short stature, Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular r... OMIM:600002
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelv... ORPHA:2370
Arthrogryposis, Distal, Type 1C
Hip contracture, Short stature, Shoulder flexion contracture, Camptodactyly of finger, Rocker bot... OMIM:619110
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Boomerang Dysplasia
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... ORPHA:1263
Seckel Syndrome 1
Abnormal finger flexion crease, Single transverse palmar crease, Micrognathia, Clinodactyly of th... OMIM:210600
Geroderma Osteodysplastica
Beaking of vertebral bodies, Pes planus, Severe short stature, Recurrent fractures, Talipes, Oste... ORPHA:2078
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared,... ORPHA:168555
Atelosteogenesis Type Iii
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... ORPHA:56305
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Short stature, ... ORPHA:319195
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Micrognathia, ... ORPHA:2050
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Accelerated skeletal maturation, Abnormal hand morphology, Metap... ORPHA:93307
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Hypoplasia of... OMIM:609813
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Generalized joint laxity, Patellar hyp... OMIM:609325
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... OMIM:304120
Osteogenesis Imperfecta, Type Vi
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib... OMIM:613982
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Kyphoscoliosis, Childhood-onset short-trunk short stature, Disproportion... OMIM:271630
Camurati-Engelmann Disease, Type 2
Osteopenia, Hip contracture, Waddling gait, Thoracolumbar scoliosis, Knee flexion contracture, Hy... OMIM:606631
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... ORPHA:40366
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Finger syndactyly, Radioulnar synostosis, Hip dysplasia, Clinod... ORPHA:71289
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Disproportionate short stature, Flattened epiphysis, Tibi... ORPHA:93356
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Short stature, Hyperlordosis, Osteolysis, Increased susceptibility to fractures, A... ORPHA:52430
Basal Cell Nevus Syndrome 1
Palmar pits, Plantar pits, Hemivertebrae, Abnormal sternum morphology, Vertebral fusion, Short ri... OMIM:109400
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Elevated alkaline phosphatase of bone... ORPHA:73
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Severe short st... OMIM:231070
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... ORPHA:2639
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Micrognathia, Proximal femoral metaphyseal irregularity, Early ossification of capital femoral ep... ORPHA:397715
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduce... OMIM:166220
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening,... OMIM:251450
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Microcephaly, Postnatal growth retardation, T... ORPHA:93324
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Rhizomelia, Pterygium, Craniosynostosis, Micromelia, Micrognat... ORPHA:93329
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Maternal Uniparental Disomy Of Chromosome X
Short stature, Rocker bottom foot, Camptodactyly of finger, Microcephaly, Gonadal tissue inapprop... ORPHA:261519
Stuve-Wiedemann Syndrome 1
Enlarged joints, Single transverse palmar crease, Micrognathia, Short neck, Femoral bowing, Tibia... OMIM:601559
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t... OMIM:265900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal ... OMIM:271640
Achondrogenesis Type 1B
Severe short stature, Micromelia, Abnormal enchondral ossification, Micrognathia, Short thorax, A... ORPHA:93298
Immunodeficiency 43
Hypoplasia of the ulna, Lung abscess, Radial bowing, B lymphocytopenia, Hypoalbuminemia, Decrease... OMIM:241600
3M Syndrome
Congenital hip dislocation, Micromelia, Increased vertebral height, Enlarged thorax, Clinodactyly... ORPHA:2616
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Micrognathia, Microcephaly, Talipes equinovarus, Arthrogryposis multiplex con... OMIM:616570
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Relative macrocephaly, Single transverse palmar crease, Recurrent fractures, Postnata... ORPHA:2324
Cole-Carpenter Syndrome 2
Osteopenia, Microretrognathia, Wide cranial sutures, Short stature, Recurrent fractures, Pectus e... OMIM:616294
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Single transverse palmar crease, Micrognathia, Microcephaly, Cryptorchidism, ... OMIM:611890
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Short stature, Recurrent fractures, Hy... ORPHA:1782
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Short stature, Recurrent fractures, Osteomalacia, B... OMIM:300554
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Ataxia, Low alkaline phosphatase, Brachydactyly OMIM:618879
Dysostosis Multiplex, Ain-Naz Type
Severe short stature, Glenoid fossa hypoplasia, Hip dislocation, Hemivertebrae, Flat acetabular r... OMIM:619345
Ulnar-Mammary Syndrome
Deformed radius, Small scrotum, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Apl... OMIM:181450
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, Polyarticular arthritis, B lymphocytopenia, Recurrent si... OMIM:619281
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarpals, Thoraci... OMIM:300232
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:253290
Osteofibrous Dysplasia, Susceptibility To
Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Knee dislocation, Irregular vertebral endplates, High palate... OMIM:618363
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi... OMIM:210710
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Micrognathia, Short palm, Clinodactyly of the 5th finger, Micropenis, Broad hallux, Clinodactyly ... OMIM:620073
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Anterior rib cupping, Lumbar hyperlor... OMIM:184253
Mucopolysaccharidosis-Plus Syndrome
Short neck, Pectus excavatum, Thrombocytopenia, Splenomegaly, Metaphyseal widening, Clubbing, Ina... OMIM:617303
Galloway-Mowat Syndrome 6
Downturned corners of mouth, Wide mouth, Hypoalbuminemia, High palate, Decreased body weight, Cli... OMIM:618347
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elbow fle... OMIM:604416
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Short stature, Micrognathia, ... OMIM:201170
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... OMIM:609945
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Micrognathia, Ac... OMIM:130070
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... ORPHA:85184
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Flexion contracture, Short long bone, ... OMIM:619479
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal sti... OMIM:117650
Slc35A2-Cdg
Osteopenia, Failure to thrive in infancy, Camptodactyly of finger, Craniosynostosis, Coxa valga, ... ORPHA:356961
Ulbright-Hodes Syndrome
Micrognathia, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal penis morphology, Short metacar... ORPHA:3404
Catel-Manzke Syndrome
Joint dislocation, Single transverse palmar crease, Micrognathia, Pectus carinatum, Clinodactyly ... OMIM:616145
Exostoses, Multiple, Type Ii
Short metacarpal, Short stature, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa... OMIM:133701
Exostoses, Multiple, Type I
Short metacarpal, Short stature, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa... OMIM:133700
Hypochondroplasia
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e... OMIM:146000
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Bilateral single transverse palmar creases, Camptodactyly of finger, Tarsal sy... ORPHA:2633
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Wide anterior fontanel, Septate vagin... OMIM:617925
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:312150
Bartsocas-Papas Syndrome 1
Micrognathia, Bilateral cryptorchidism, Flexion contracture, Hypoplastic iliac wing, Micropenis, ... OMIM:263650
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Decreased... OMIM:616829
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Abnormality of t... ORPHA:3098
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Abnorma... ORPHA:85198
Cranioectodermal Dysplasia 1
Single transverse palmar crease, Narrow chest, Joint laxity, Rhizomelia, Sagittal craniosynostosi... OMIM:218330
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Crypto... OMIM:258315
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Pes ... OMIM:607323
Osteogenesis Imperfecta, Type Vii
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... OMIM:610682
Van Buchem Disease
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ... OMIM:239100
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... ORPHA:83
Diamond-Blackfan Anemia 1
Micrognathia, Short neck, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Narrow... OMIM:105650
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Osteopenia, Broad-based gait, Recurrent fractures, Microcephaly, Inability to walk OMIM:619884
Pycnodysostosis
Abnormal clavicle morphology, Persistent open anterior fontanelle, Micrognathia, Generalized oste... ORPHA:763
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Kyphosis, Cone-shaped epiphyses of the phalanges of the hand... ORPHA:420794
Kniest Dysplasia
Enlarged joints, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage co... OMIM:156550
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Joint stiffness, Pectus ... ORPHA:392
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Premature thelarche, Abnormal hand morphology, Sclerotic cranial sutures... ORPHA:371428
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Spondylometaphyseal Dysplasia, Pagnamenta Type
Pes planus, Thin bony cortex, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Platyspond... OMIM:619638
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... ORPHA:2769
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Anorexia, Splenome... ORPHA:507
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Micrognathia, Accelerated skeletal maturation, Multiple joint dislocation, Pectus car... OMIM:245600
Wolcott-Rallison Syndrome
Hyponatremia, Metaphyseal dysplasia, Neonatal insulin-dependent diabetes mellitus, Neutropenia, H... ORPHA:1667
Xylt1-Cdg
Joint laxity, Pes planus, Joint dislocation, Relative macrocephaly, Short stature, Coxa valga, Ac... ORPHA:370930
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology, Macrocephaly,... ORPHA:1506
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Coxa valga, Cryptorchidism, Osteoporosis, Finger clinodactyly, Patellar subluxation, Bilateral ta... ORPHA:2958
Acro-Renal-Ocular Syndrome
Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly... ORPHA:959
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra... OMIM:259700
Desbuquois Syndrome
Severe short stature, Genu recurvatum, Camptodactyly of finger, Coxa valga, Elbow dislocation, Ac... ORPHA:1425
Acrorenal Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... ORPHA:971
Microcephaly-Micromelia Syndrome
Micromelia, Craniosynostosis, Missing ribs, Absent thumb, Absent radius, Humeroradial synostosis,... OMIM:251230
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Micr... ORPHA:536471
Boudin-Mortier Syndrome
Joint laxity, Mallet finger, Long toe, Pes planus, Arachnodactyly, Elevated alkaline phosphatase ... OMIM:619543
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar... OMIM:617780
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Microcephaly, Delayed skeletal maturation, Abnormal rib morphology, Abnorma... ORPHA:2643
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Mucolipidosis Iii Gamma
Increased iduronate sulfatase level, Short stature, Abnormality of the hand, Joint stiffness, Fla... OMIM:252605
Seckel Syndrome 5
11 pairs of ribs, Pes planus, Hypospadias, Short stature, Micrognathia, Microcephaly, Cryptorchid... OMIM:613823
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... ORPHA:1275
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Decreased beta-galactosidase activ... OMIM:253010
Poems Syndrome
Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Metaphyseal sclerosis, Weight ... ORPHA:2905
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... ORPHA:94124
Immunodeficiency 32B
Neutrophilia, Sinusitis, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbumi... OMIM:226990
Mucopolysaccharidosis, Type Iva
Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flaring of rib c... OMIM:253000
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Delayed epiphyseal ... ORPHA:166016
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... ORPHA:93284
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Short stature, Delayed skeletal maturation, Genu valgum, Slender long bones with narr... OMIM:608154
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Sco... OMIM:619013
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... OMIM:218600
Thoracomelic Dysplasia
Bell-shaped thorax, Disproportionate short-limb short stature, Short ribs OMIM:273740
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality... ORPHA:3035
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Lumbar hyperlordosis, Elevated alkaline phosphatase of bone origin, Paget disea... OMIM:167320
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os... ORPHA:232
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Ataxia, Stomatitis, Osteoporosis, Rickets, Weight loss, Depression, Iron defic... OMIM:212750
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptib... OMIM:166200
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Short metacarpal, Severe short stature, Thoracolumbar kyphoscoliosis... OMIM:618853
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Abnormality of alkaline phosphatase level, Precocious puberty, Microcephaly, Short ... OMIM:619356
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Talipes equinovalgus, Tibia... ORPHA:453510
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly... OMIM:263520
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abn... ORPHA:666
Chromosome 20Q11-Q12 Deletion Syndrome
Adducted thumb, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Intrauterine growth retar... OMIM:614257
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Increased spinal bone density, Recurrent fractures, Bone pain, Elevated circulating alkaline phos... ORPHA:329475
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Microcephaly, Cryptorchidism, Unsteady gait, Genu valgum, Growth delay, Overgrowth, ... OMIM:617798
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short stature, Metatarsus valgus, Apla... ORPHA:3082
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Premature loss of teeth, Oral ... ORPHA:486
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Immunodeficiency 15B
Monocytosis, Failure to thrive, Reduced natural killer cell count OMIM:615592
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hypospadias, Short stature, Micrognathia, Pectus excavatum, Hyperlo... ORPHA:2522
Cdags Syndrome
Hypospadias, Sagittal craniosynostosis, Kyphosis, Rectovaginal fistula, Short ribs, Lambdoidal cr... OMIM:603116
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Recurrent fractures, Short stature, Kyphoscoliosis, Osteoporosis, Hi... OMIM:616507
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Splenomeg... OMIM:616050
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Micrognathia, Short metatarsal, Narrow chest, Clinodactyly of the 5th finger, Short p... OMIM:266920
Isolated Osteopoikilosis
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... ORPHA:166119
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr... ORPHA:1856
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Missing ribs, Hyperlordosis, Microcephaly, Short thorax, Abnormal rib morph... ORPHA:1797
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia OMIM:300484
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnor... ORPHA:950
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Moderately sho... ORPHA:157965
Mesomelic Dysplasia, Savarirayan Type
Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal thorax morphology,... OMIM:605274
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, 11 pairs of ribs, Sandal gap, Short stature, Pectus excavatum, Short toe, Delayed ske... OMIM:617877
Weismann-Netter Syndrome
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... OMIM:112350
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Short stature, Recurrent fractures, Osteomalacia, B... OMIM:300009
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ... OMIM:184260
Infantile Systemic Hyalinosis
Osteopenia, Severe short stature, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joi... ORPHA:2176
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Single transverse palmar crease, Tibial bowing, H... OMIM:269150
Multiple Epiphyseal Dysplasia Type 5
Abnormal upper limb epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Multi... ORPHA:93311
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Hypoplasia of penis, Hypogonadotropic hypogonadism, Short stature, Hyp... ORPHA:3068
Hypophosphatemic Rickets, Autosomal Recessive, 2
Short stature, Coxa valga, Delayed skeletal maturation, Genu valgum, Elevated circulating alkalin... OMIM:613312
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Long palm, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of... ORPHA:2759
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Distal sensory impairment, ... OMIM:607250
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Hemivertebrae, Clitoral hypoplasia, Short palm, Thoracic hemivertebrae, Micropenis,... OMIM:268310
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Microcephaly, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal stern... ORPHA:2519
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... ORPHA:3472
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Accelerated skeletal maturation, Increased susceptibi... ORPHA:561
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Enlarged joints, Short stature, Lumbar hyperlordosis, Large tarsal bones, M... OMIM:215150
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Scoliosis, Short femur, Foot oligodactyly, Amelia OMIM:601357
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Proportionate short stature, Thin cla... OMIM:244460
Sillence Syndrome
Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular roof, Bulbou... ORPHA:3168
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Absent in utero... OMIM:608022
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Micrognathia, Bifid humerus, Lac... OMIM:256050
Grange Syndrome
Short palm, Syndactyly, Increased susceptibility to fractures ORPHA:79094
Congenital Disorder Of Glycosylation, Type Ih
Short neck, Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Talipes equin... OMIM:608104
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Micrognathia, Postnatal growth retardation, Abnormal thorax morpho... ORPHA:73230
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... OMIM:619644
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... OMIM:154400
Cerebrooculofacioskeletal Syndrome 4
Short stature, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Kyphoscoliosis, Microce... OMIM:610758
Autosomal Recessive Cutis Laxa Type 2A
Pes planus, Persistent open anterior fontanelle, Congenital hip dislocation, Ataxia, Delayed cran... ORPHA:357058
Thoracopelvic Dysostosis
Short stature, Short ribs OMIM:187770
Beta-Ketothiolase Deficiency
Ataxia, Hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Weight loss, Agitation, Hyperuricem... ORPHA:134
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morph... ORPHA:208441
Neurogenic Arthrogryposis Multiplex Congenita
Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathia, Equinovarus deformi... ORPHA:1143
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Rocker bottom foot, Micrognathia, Microcephaly, Cryptorchidism, Hand clenching, Arthrogryposis mu... OMIM:618766
Alg12-Cdg
Proximal placement of thumb, Micrognathia, Recurrent hypoglycemia, Short philtrum, Hypoalbuminemi... ORPHA:79324
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration OMIM:615426
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Pectus excavatum, Mul... OMIM:271225
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hypoalbuminemia, Short palm, Hypoplast... OMIM:235510
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Short stature, Delayed skelet... OMIM:617927
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Barrel-shaped chest, Short stature, Recurrent fractures, Kyphoscoliosis, Microcephaly... OMIM:259770
Rin2 Syndrome
Pes planus, Hypergonadotropic hypogonadism, Cryptorchidism, Increased susceptibility to fractures... ORPHA:217335
Mirage Syndrome
Hyponatremia, Hypoglycemia, Rocker bottom foot, Radial club hand, Thrombocytopenia, Hyperkalemia,... OMIM:617053
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Join... ORPHA:1147
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer... OMIM:603553
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Irregular vertebral endplates, Short phalanx of finger, Dislocated radial head, Joint... OMIM:612350
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Hyperextensibility of the finger joints, Ataxia, Microcephaly, Micrognathia, Dy... OMIM:618356
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... ORPHA:3312
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Hypospadias, Joint hypermobility, Joint stiffness, Postnatal growth retardation... OMIM:619184
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Bell-shaped thorax, Short long bone... OMIM:615633
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Focal Dermal Hypoplasia
Acute hepatic failure, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Abnormal palma... ORPHA:2092
Panner Disease
Limited elbow movement, Abnormality of the humerus, Irregular articular surfaces of the elbow joi... ORPHA:97336
Nievergelt Syndrome
Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Mesomelic short s... OMIM:163400
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Clubbing, Iron deficiency anemia, Clubbing of fingers, Hypoalbuminemia, Thrombocytosis, Hypoprote... OMIM:226300
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... OMIM:268305
Shprintzen-Goldberg Syndrome
Osteopenia, Pes planus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Cranio... ORPHA:2462
48,Xxyy Syndrome
Tremor, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Abnormal repetitive manneri... ORPHA:10
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... OMIM:271700
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Pectus excavatum, Accessory oral frenulum, H... OMIM:258860
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature, Microcephaly ORPHA:2435
Arthrogryposis, Distal, Type 2A
Joint dislocation, Knee flexion contracture, Spina bifida occulta, Wrist flexion contracture, Uln... OMIM:193700
Diamond-Blackfan Anemia
Pure red cell aplasia, Micrognathia, Short neck, Reticulocytopenia, Leukopenia, High palate, Trip... ORPHA:124
Occipital Horn Syndrome
Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac win... ORPHA:198
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn... ORPHA:1427
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Elevated circulating alkaline phosphatase concentration OMIM:616917
Pontocerebellar Hypoplasia, Type 12
Rocker bottom foot, Micrognathia, Talipes equinovarus, Primary microcephaly, Overlapping fingers,... OMIM:618266
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Bowing of the long bones, Short stature, Ataxia, Metaphyseal sclerosis, Postnatal gro... OMIM:612199
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Proximal placement of thumb, Absent radius, Hand polydactyly, Abnormal vertebral m... OMIM:314390
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating alanine a... OMIM:619658
Mazabraud Syndrome
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures ORPHA:57782
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Cubitus valgus, Abnormality of body height, Humeroradial synostosis, Progressi... OMIM:186570
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnorma... ORPHA:2145
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Rhizomelia, Talipes, Short stature, Microcephaly, Hemivertebrae, Vertebral segm... OMIM:617661
Satoyoshi Syndrome
Abnormality of the knee, Short stature, Tapered finger, Abnormality of the humerus, Abnormality o... ORPHA:3130
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Short humerus, Abnormal circulating enzyme concentration or activi... ORPHA:17
Braddock Syndrome
Short stature, Micrognathia, Pectus excavatum, Preaxial hand polydactyly, Missing ribs, Hemiverte... ORPHA:52047
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Microcephaly, Multiple prenatal fractures, Pectus excavatum, Pectus carinatum, Decreased calvaria... OMIM:259410
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Barrel-shaped chest, Lumbar hyperlordosis, Postnatal growth retardation, Kyphosis, Limitation of ... OMIM:313400
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,... OMIM:226980
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Single transverse palmar crease, Intermittent thrombocytopenia, Perianal absce... OMIM:612541
Hallermann-Streiff Syndrome
Recurrent fractures, Proportionate short stature, Micrognathia, Microcephaly, Cryptorchidism, Sma... ORPHA:2108
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Caudal Regression Syndrome
Missing ribs, Joint stiffness, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplasia... ORPHA:3027
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect... ORPHA:175
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Abnormal thorax morphology, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Short neck, Obesity, High palate, Abnormal metacarpal morphology ORPHA:2233
Acromesomelic Dysplasia 4
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... OMIM:619636
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Short stature, Craniosyno... OMIM:616723
Shox-Related Short Stature
Short stature, Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm ... ORPHA:314795
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... ORPHA:93316
Premature Aging Syndrome, Penttinen Type
Micrognathia, Hyperextensibility of the knee, Palmoplantar hyperkeratosis, Tibial bowing, Short p... OMIM:601812
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia... ORPHA:2688
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte... OMIM:216340
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Anorexia, Thrombocytopenia, Leukocytosis, S... ORPHA:824
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ... ORPHA:970
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, Ulnar deviation of the wrist, Pectus excavatum, 2-3 toe syndactyly... OMIM:618162
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow... ORPHA:85170
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Tall stature, Broad-based gait, Long palm, Recurrent fra... OMIM:309583
Reni Syndrome
Hypertriglyceridemia, Ataxia, Hypoglycemia, Hypoalbuminemia, Mental deterioration, Lymphopenia OMIM:617575
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Hypospadias, Camptodactyly of finger, Short st... ORPHA:2311
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Short toe, Delayed skeletal maturation, Short fe... OMIM:609441
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Developmental And Epileptic Encephalopathy 95
Joint laxity, Short fourth metatarsal, Multiple joint contractures, Brachydactyly, Single transve... OMIM:618143
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should... OMIM:274000
Schaaf-Yang Syndrome
Short stature, Rocker bottom foot, Tapered finger, Cryptorchidism, Kyphosis, Flexion contracture,... OMIM:615547
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Blount Disease
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... ORPHA:2768
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Short phalanx of fing... ORPHA:221008
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hypercholest... ORPHA:247585
Desbuquois Dysplasia 2
Single transverse palmar crease, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow... OMIM:615777
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short stature, Micrognathia, Missing ribs, Abnormal rib morphology, Abno... ORPHA:1834
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Neutrophilia, Ankle swelling, Confusion, Leukocytosis, Clubbing, Hepatosplenomegal... ORPHA:3260
Marfan Syndrome
Genu recurvatum, Equinus calcaneus, Micrognathia, Flexion contracture, Narrow foot, Pectus carina... OMIM:154700
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Persistence of primary teeth, Supernumerary tooth, High palate, Talipes equinovarus, Scoliosis, N... OMIM:619752
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... OMIM:108721
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulating alkaline phosphatas... OMIM:619484
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Abnormality of the dentition, Hypoalbuminemia, ... OMIM:613752
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Ataxia, Anorexia, Leukocytosis, Hyperammonemia, Weight loss, Leukopenia,... ORPHA:20
Mosaic Trisomy 14
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Lower limb asymmetry, Micrognathia, Cr... ORPHA:1703
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... OMIM:164900
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Impaired distal proprioception, Impaired pro... ORPHA:14
White Forelock With Malformations
Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ... ORPHA:2475
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... ORPHA:2876
Jackson-Weiss Syndrome
Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2... OMIM:123150
Spondylocostal Dysostosis 5
Vertebral fusion, Severe short stature, Missing ribs, Disproportionate short-trunk short stature,... OMIM:122600
Nephrotic Syndrome, Type 11
Arachnodactyly, Micrognathia, Cleft lip, Partial duplication of thumb phalanx, Cleft palate, Hypo... OMIM:616730
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum... ORPHA:2741
Renpenning Syndrome
Severe short stature, Hypospadias, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, ... ORPHA:3242
Wt Limb-Blood Syndrome
Pancytopenia, Ulnar deviation of the 3rd finger, Micrognathia, Absent thumb, Short thumb, Retrogn... OMIM:194350
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... ORPHA:93317
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Microcephaly, Inability to walk, Shortening of all distal phalanges of the fingers, Growth delay,... OMIM:615716
Becker Nevus Syndrome
Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Hypoplas... ORPHA:64755
Coxoauricular Syndrome
Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi... ORPHA:1508
Trichohepatoenteric Syndrome 1
Small for gestational age, Increased mean platelet volume, Avascular necrosis of the capital femo... OMIM:222470
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Short metacarpal, Short stature, Abnormal thorax morphology, Rhizomelic arm shorte... ORPHA:508542
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... ORPHA:536467
Mitochondrial Trifunctional Protein Deficiency
Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex, Tip-toe gait, Pes cavus, Chr... ORPHA:746
Cat-Eye Syndrome
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology, Short stature ORPHA:195
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... ORPHA:3258
Autosomal Recessive Hypophosphatemic Rickets
Bone pain, Coxa vara, Enthesitis, Tibial bowing, Hypophosphatemic rickets, Sclerotic vertebral en... ORPHA:289176
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Short palm, Hypoplasia of penis, Micromelia, Micrognathia, Urethrovaginal fistula, Preaxial hand ... ORPHA:93271
Al-Gazali Syndrome
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Micrognathia, Bi... OMIM:609465
Coxopodopatellar Syndrome
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... ORPHA:1509
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia OMIM:616871
Wieacker-Wolff Syndrome, Female-Restricted
Microretrognathia, Hip contracture, Radial deviation of the hand, Short stature, Rocker bottom fo... OMIM:301041
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Leuk... ORPHA:94093
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... ORPHA:1307
Noonan Syndrome 12
11 pairs of ribs, Pectus excavatum, Proximal placement of thumb OMIM:618624
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint laxity, Lumbar hyperlordosis, Progressive flexion contractures, Ataxia, Equinus calcaneus, ... ORPHA:522077
3C Syndrome
Finger syndactyly, Hypoplasia of penis, Hypospadias, Short stature, Missing ribs, Micrognathia, P... ORPHA:7
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... OMIM:144750
Fatco Syndrome
Finger syndactyly, Short stature, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absen... ORPHA:2492
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... ORPHA:85167
Hypophosphatasia, Adult
Arthropathy, Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Low alkaline p... OMIM:146300
Cree Mental Retardation Syndrome
Bifid scrotum, Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Micrognathia, Pec... OMIM:606851
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Failure to thrive in infancy, Hypoalbuminemia, Microcytic anemia OMIM:618805
Variant Abeta2M Amyloidosis
Multiple bony cystic lesions, Wrist pain, Pathologic fracture, Knee pain, Arthralgia of the hip ORPHA:314652
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis... OMIM:207410
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... ORPHA:2070
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Ve... ORPHA:2631
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Micrognathia, Generalized joint laxity, Thoracic kyphosis, Hypermobility of i... ORPHA:508498
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... ORPHA:1788
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... ORPHA:2167
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Thoracolumbar kyphosis, Increased intervertebral space, Opi... ORPHA:508533
Brittle Cornea Syndrome
Hallux valgus, Pes planus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, J... ORPHA:90354
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,... ORPHA:2909
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... ORPHA:158061
Severe Congenital Nemaline Myopathy
Hypospadias, Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin r... ORPHA:171430
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance,... ORPHA:2298
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bo... OMIM:276820
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Short neck, Coxa va... ORPHA:800
Rothmund-Thomson Syndrome Type 2
Osteopenia, Joint dislocation, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Mi... ORPHA:221016
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Bowing of the legs, Rickets, Bone pain, Growth delay, Elevated circulating alkaline... ORPHA:89937
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Epiphyseal Dysplasia, Baumann Type
Joint laxity, Epiphyseal dysplasia, Carpal bone aplasia, Pes planus, Hypoplasia of the femoral he... OMIM:610797
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Chorea, Knee oste... ORPHA:1304
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Positional foot deformity, Pect... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Positional foot deformity, Pect... ORPHA:363958
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Hydrometrocolpos, Aplasia of th... OMIM:617088
Arthrogryposis Multiplex Congenita 5
11 pairs of ribs, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Microcephaly, Akinesia, Flexi... OMIM:618947
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange... ORPHA:1647
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Thin upper lip vermilion, Ataxia, Tremor, Kyphosis, Dysmetria, Hypoalbuminemia, Hypoc... OMIM:212065
Diarrhea 13
Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia OMIM:620357
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Vertebral segmenta... OMIM:611209
Thrombocythemia 3
Thrombocytosis OMIM:614521
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Accele... ORPHA:1517
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased body weight, Abnormal circulating selenium concentration, Decreased serum iron, Carious... ORPHA:89842
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... OMIM:112250
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukoc... OMIM:615688
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Irritability, H... ORPHA:292
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Cholestasis, Benign Recurrent Intrahepatic, 2
Elevated circulating alkaline phosphatase concentration, Intrahepatic cholestasis, Jaundice OMIM:605479
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Bone pain, Osteolysis, Elevated circulating a... OMIM:167250
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ... OMIM:618265
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Long fibula, Short palm, Genu ... ORPHA:2502
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... ORPHA:2496
Immunodeficiency 102
Autoimmune thrombocytopenia, Aphthous ulcer, Neutropenia in presence of anti-neutropil antibodies... OMIM:301082
Ritscher-Schinzel Syndrome 1
Syndactyly, Hypospadias, Micrognathia, Missing ribs, Hemivertebrae, Intrauterine growth retardation OMIM:220210
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... ORPHA:247353
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic gi... ORPHA:2928
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Flexion contracture, Bone pain, Synovitis, Increas... ORPHA:77297
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Cartilage-Hair Hypoplasia
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Narrow vertebral interpedicular distan... OMIM:250250
Tetrasomy 9P
Joint dislocation, Aplasia/Hypoplasia of the clavicles, Hypoplastic scapulae, Missing ribs, Micro... ORPHA:3310
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Flexion contracture, Narrow chest, Genu varum, Long toe, Hypospadias, Short stature... OMIM:264090
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Thrombocythemia 2
Thrombocytosis OMIM:601977
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Tibial bowing, Knee dislocation, Sho... OMIM:143095
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia OMIM:617585
Kid Syndrome
Equinus calcaneus, Coxa valga, Postnatal growth retardation, Patellar hypoplasia, Knee flexion co... ORPHA:477
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Elevated circulating alkaline phosphatase concentration OMIM:174050
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormality of the hand, Abnormality of the wrist, Abnormal foot morphology, O... ORPHA:1657
Spondylocarpotarsal Synostosis Syndrome
Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Verte... OMIM:272460
Craniometaphyseal Dysplasia, Autosomal Dominant
Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Sclerosis of skull base, Abnormal ... OMIM:123000
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Short stature, Microcephaly, Tapered finger OMIM:618367
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Abnormal toe morphology, Precocio... OMIM:163200
Cranioectodermal Dysplasia 2
Joint laxity, Syndactyly, Elevated hepatic transaminase, Rhizomelia, Short stature, Craniosynosto... OMIM:613610
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Micrognathia, Flexion contracture, Talipes calcaneovalgus, Knee flex... OMIM:265000
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Micrognathia, Missing ribs, Cryptorchidism, Abnormal rib morpholog... ORPHA:3301
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... OMIM:259600
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Severe short stature, Micromelia, Microcephaly, Increased sku... ORPHA:1422
6Q25 Microdeletion Syndrome
Short stature, Rocker bottom foot, Camptodactyly of finger, External genital hypoplasia, Microgna... ORPHA:251056
Isolated Klippel-Feil Syndrome
Abnormal rib morphology, Abnormal shoulder morphology, Scoliosis, Cervical C2/C3 vertebral fusion... ORPHA:2345
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scolio... ORPHA:2180
2Q31.1 Microdeletion Syndrome
Micrognathia, Short neck, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, ... ORPHA:251014
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing... OMIM:612394
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Ataxia, Hyperlordosis, Thin lower lip vermilion, Abnormal T cell subset distribution,... ORPHA:221139
X-Linked Intellectual Disability, Miles-Carpenter Type
Joint hyperflexibility, Hypogonadism, Rocker bottom foot ORPHA:85283
Focal Dermal Hypoplasia
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Clitoral hypoplasia, Foot olig... OMIM:305600
Prader-Willi Syndrome Due To Imprinting Mutation
Narrow palm, Small hand, Obesity, Short foot, Abnormal ulnar metaphysis morphology, Polyphagia ORPHA:177910
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Short stature, Anterior rib cupping, Ovoid vertebral bodies, Metap... OMIM:260400
Orofaciodigital Syndrome Ix
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa... OMIM:258865
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Pectus carinatum, Knee flexion contracture, Clinodactyly of the 5th finger, Bilateral single tran... ORPHA:488642
Xq12-Q13.3 Duplication Syndrome
Short stature, Microcephaly, Pectus excavatum, Cryptorchidism, Low alkaline phosphatase, 2-3 toe ... ORPHA:314389
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal... ORPHA:3250
Cohen Syndrome
Pes planus, Thoracic scoliosis, Short metacarpal, Small for gestational age, Single transverse pa... OMIM:216550
Talonavicular Coalition
Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali... OMIM:186750
Orofaciodigital Syndrome Type 2
Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham... ORPHA:2751
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... ORPHA:90652
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormality of the dentition, Pectus excavatum, Carious teeth, Radioulnar synostosis, Gait distur... ORPHA:3270
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Kyphoscoliosis, Microce... OMIM:610756
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Arthrogryposis multiplex congenita, Rocker bottom foot, Microcephaly OMIM:619072
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Elevated hepatic transaminase, Hypoplastic scapulae, Short stature, Camptodactyly ... OMIM:256040
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... OMIM:259710
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Elevated circulating C-reactive protein concentration, Leukopenia, Thrombocytosis, F... OMIM:615934
8Q24.3 Microdeletion Syndrome
Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Fing... ORPHA:508488
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Wiedemann-Steiner Syndrome
Aplasia/Hypoplasia of the ribs, Rhizomelia, Short stature, Abnormality of the hand, Tapered finge... ORPHA:319182
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Accelerated skeletal maturation, Flexion contracture, Pectus carinatum, Narrow gr... OMIM:253220
Pgm3-Cdg
Hemolytic anemia, Failure to thrive, Brachydactyly, Abnormal proportion of CD8-positive T cells, ... ORPHA:443811
Stüve-Wiedemann Syndrome
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Shor... ORPHA:3206
Osteogenesis Imperfecta, Type Xv
Short stature, Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fra... OMIM:615220
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Abnormality of the dentition, 2-3 toe syndact... ORPHA:391307
Mosaic Trisomy 8
Short stature, Camptodactyly of finger, Micrognathia, Cryptorchidism, Limitation of joint mobilit... ORPHA:96061
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Kyphoscoliosis, Coxa valga, Micrognathia, Cryptorchidism, Microcephaly, Flexi... OMIM:214150
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Recurrent fractures, Short stature, Delayed skeletal maturation, ... ORPHA:2410
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture, Multiple enchondromatosis OMIM:614569
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn... ORPHA:363417
Opsismodysplasia
Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Short metacarpal... OMIM:258480
Doors Syndrome
Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Downturned corners of mouth, W... ORPHA:79500
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Craniosynostosis ORPHA:88643
Prader-Willi Syndrome
Osteopenia, Small scrotum, Short stature, External genital hypoplasia, Precocious puberty, Crypto... ORPHA:739
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, Increased circ... OMIM:614034
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ... OMIM:235555
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Dystonia, Ataxia, Elevated circulating creatine kinase concentration... ORPHA:64753
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Wide cranial sutures, Short stature, Limited elbow movement, Joint stiffness, ... OMIM:614008
Frontometaphyseal Dysplasia 1
Carpal synostosis, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Incr... OMIM:305620
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Osteoporosis, Hepatosplenomegaly, Weight loss, Irritability, Hypoalbuminemia, S... OMIM:619487
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Short foot, Periodontitis, Compulsive behaviors, Reduction of neutrophil motility, ... OMIM:266265
Bacterial Toxic-Shock Syndrome
Sinusitis, Abscess, Elevated circulating creatine kinase concentration, Confusion, Abnormality of... ORPHA:36234
Pelger-Huet Anomaly
Abnormality of neutrophils, Abnormality of the dentition, Kyphosis, Hyposegmentation of neutrophi... OMIM:169400
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Pectus ex... OMIM:618150
Martsolf Syndrome 1
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu... OMIM:212720
Myotonia With Skeletal Abnormalities And Mental Retardation
Short stature, Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Bell-... OMIM:255710
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormal femur morphology, Ab... ORPHA:3429
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Camptodactyly of finger, Hypoglycemia, Malar prominence, Micrognathia, Kyphosis, Osteopor... ORPHA:48431
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Missing ribs ORPHA:1759
48,Xyyy Syndrome
Pes planus, Impulsivity, Aggressive behavior, Short neck, Abnormal foot morphology, Thick lower l... ORPHA:99329
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Kyphosis, Disproportionate short-t... ORPHA:583
Czech Dysplasia
Narrow femoral neck, Waddling gait, Short metacarpal, Flat capital femoral epiphysis, Short toe, ... OMIM:609162
Paget Disease Of Bone 6
Elevated circulating alkaline phosphatase concentration OMIM:616833
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
48,Xxxy Syndrome
Mandibular prognathia, Short neck, Tremor, Clinodactyly of the 5th finger, Abnormal dental enamel... ORPHA:96263
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Absent frontal sinuses, Bone pain, Pectus carinatum, Decreased skull os... ORPHA:955
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Single transverse palma... OMIM:617425
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
Interstitial Lung And Liver Disease
Clubbing, Intraalveolar phospholipid accumulation, Hyperammonemia, Hypoxemia, Thrombocytosis, Fai... OMIM:615486
Moebius Syndrome
Syndactyly, Brachydactyly, Pes planus, Hypogonadotropic hypogonadism, Micrognathia, Clinodactyly,... OMIM:157900
Hepatoportal Sclerosis
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Cognitive i... ORPHA:64743
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Pectus excavatum, Triphalangeal th... ORPHA:957
Campomelia, Cumming Type
Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal thorax morphology, ... ORPHA:1318
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesi... OMIM:616267
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Prominent metopic ridge, Tapered finger, Microcephaly, Long fingers, Calcaneovalgus deformity, Ab... ORPHA:521445
Grant Syndrome
Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing OMIM:138930
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Disproportionate short... OMIM:619698
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Osteopenia, Pathologic fracture, Bone cyst, Gait disturbance OMIM:618193
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration OMIM:214900
Simpson-Golabi-Behmel Syndrome, Type 1
Accelerated skeletal maturation, Pectus carinatum, Vertebral segmentation defect, Narrow greater ... OMIM:312870
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short stature, Missing ribs, Bilateral cryptorchidism, Coronal hypospadias, Lumbar hemivertebrae,... OMIM:619859
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Micrognathia, Unilateral radial aplasia, Tremor, Aplasia of the 1st metacarpal, ... ORPHA:476126
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia,... OMIM:254900
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ... OMIM:617021
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Congenital hip dislocation, Limb joint contracture, Coxa valga, In... ORPHA:404454
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... OMIM:206920
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Small hypothenar eminence, Tall stature, Arachnodactyly, Thenar muscle atrophy, Pectu... ORPHA:2463
Hamamy Syndrome
Osteopenia, Syndactyly, Long toe, Down-sloping shoulders, Recurrent fractures, Craniosynostosis, ... OMIM:611174
Wilson Disease
Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis, Pedal edema, Hand trem... OMIM:277900
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Small scrotum, Arachnodactyly, Camptodactyly of finge... ORPHA:2215
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Microcephaly, Elbow dislocation, Limitation o... ORPHA:3265
Gm1-Gangliosidosis, Type Ii
Ataxia, Coxa valga, Protruding tongue, Splenomegaly, Narrow mouth, Progressive psychomotor deteri... OMIM:230600
Hermansky-Pudlak Syndrome 2
Smooth philtrum, Thin upper lip vermilion, Absent platelet dense granules, Decreased CD4:CD8 rati... OMIM:608233
Leukemia, Chronic Myeloid
Reduced leukocyte alkaline phosphatase OMIM:608232
Myhre Syndrome
Abnormal penis morphology, Craniofacial hyperostosis, Brachydactyly, Severe short stature, Hyposp... ORPHA:2588
Congenital Disorder Of Glycosylation, Type Iib
Thoracic scoliosis, Elevated circulating aspartate aminotransferase concentration, Recurrent frac... OMIM:606056
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Attention deficit hyperactivity disorder OMIM:615401
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Wide penis, Hypoplastic vertebral bodies, Long toe, Hypogonadotropic hypogonadism, Hy... ORPHA:3455
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus ca... OMIM:182212
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Single ... OMIM:227270
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Postaxial polydactyly, Preaxial polydactyly, Short ribs, Narrow ch... OMIM:616546
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Syndactyly, Radial bowing, Apl... OMIM:605432
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Glandular hypospadias, Short femur, Talipes equinovarus OMIM:620306
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Cachexia, Sp... ORPHA:1133
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Barrel-shaped chest, Hip contracture, Vertebral fusion, Short stature, Elbow contracture, Cranios... OMIM:178110
Classic Homocystinuria
Elevated hepatic transaminase, Arachnodactyly, Recurrent fractures, Joint stiffness, Pectus excav... ORPHA:394
Chst3-Related Skeletal Dysplasia
Barrel-shaped chest, Delayed eruption of teeth, Short metacarpal, Waddling gait, Rhizomelia, Enla... ORPHA:263463
6Q Terminal Deletion Syndrome
Joint laxity, Aplasia/Hypoplasia of the ribs, Hallux valgus, Prominent metopic ridge, Hypospadias... ORPHA:75857
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Metaphyseal cho... ORPHA:811
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Bone pa... ORPHA:667
Hyperphosphatasia-Intellectual Disability Syndrome
Ataxia, Micrognathia, Pectus excavatum, Decreased head circumference, Shortening of all distal ph... ORPHA:247262
Marburg Hemorrhagic Fever
Back pain, Lymphopenia, Reticulocytosis, Hypoglycemia, Elevated circulating creatine kinase conce... ORPHA:99826
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion... ORPHA:90362
Synostoses, Tarsal, Carpal, And Digital
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:186400
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Down-sloping shoulders, Carious teeth, Cognitive impairment, Scoliosis, Clinodactyly of the 5th f... ORPHA:1390
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Abnormal clavicle morphology, Ataxia, Joint stiffness, Avascular necro... ORPHA:581
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Prominent metopic ridge, Microcephaly, Pectus excavatum, Cryptorchid... ORPHA:488632
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Hypospadias, Short stature, Kyphoscoliosis, Micrognathia, Absent fronta... OMIM:102500
Gracile Bone Dysplasia
Short stature, Flared metaphysis, Thin ribs, Slender long bone, Micropenis, Decreased skull ossif... OMIM:602361
Alg1-Cdg
Kyphosis, Hypoalbuminemia, Scoliosis ORPHA:79327
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion contracture, S... OMIM:268300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Thrombocytopenia, Inability to walk, Hepat... ORPHA:505248
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Missing ribs, Absent external genitalia, Rib fusion, Hemiverte... OMIM:271520
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Emotion... ORPHA:324636
49,Xxxxy Syndrome
Mandibular prognathia, Short neck, Tremor, Low frustration tolerance, Clinodactyly of the 5th fin... ORPHA:96264
Aicardi Syndrome
Block vertebrae, Missing ribs, Precocious puberty, Microcephaly, Rib fusion, Small hand, Hip dysp... ORPHA:50
Galloway-Mowat Syndrome 1
Dystonia, Small for gestational age, Ataxia, Micrognathia, Wide mouth, Hypoalbuminemia, Talipes e... OMIM:251300
Fanconi-Bickel Syndrome
Osteopenia, Bowing of the long bones, Elevated circulating aspartate aminotransferase concentrati... ORPHA:2088
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Galloway-Mowat Syndrome 3
Arachnodactyly, Micrognathia, Pectus excavatum, Narrow mouth, Hip dislocation, Hypoalbuminemia, H... OMIM:617729
Robinow Syndrome
Small scrotum, External genital hypoplasia, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Web... ORPHA:97360
Menkes Disease
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Pe... ORPHA:565
Caffey Disease
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... OMIM:114000
Schimke Immunoosseous Dysplasia
Osteopenia, Waddling gait, Pancytopenia, Lumbar hyperlordosis, Small for gestational age, Ovoid v... OMIM:242900
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Micrognathia, Epispadias, Clitoral hypoplasia, Clinodactyly of the 5th finge... ORPHA:2554
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Analbuminemia
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... OMIM:616000
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Micrognathia, Short neck, Downturned corners of mouth, Oligodontia, Short philtrum, Long philtrum... ORPHA:391408
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Block vertebrae, Short stature, Missing ribs, Pectus excavatum, Short thorax, R... OMIM:613686
Cleidocranial Dysplasia 2
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior font... OMIM:620099
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Small scrotum, Multiple pterygia, Micrognathia, Symphalangism affecting the ... ORPHA:2990
Tarsal-Carpal Coalition Syndrome
Abnormality of the ankle, Short stature, Tarsal synostosis ORPHA:1412
Brachytelephalangic Chondrodysplasia Punctata
Abnormal circulating enzyme concentration or activity, Butterfly vertebrae, Calcaneal epiphyseal ... ORPHA:79345
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Bilatera... OMIM:602535
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Pectus carinatum, Cone... OMIM:190350
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Kyphoscoliosis, A... ORPHA:3077
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hyponatremia, Macrocytic anemia, Hypoglycemia, Eosinophilia, Hypercalcemia, An... ORPHA:199299
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb... ORPHA:540
Codas Syndrome
Short metacarpal, Congenital hip dislocation, Short stature, Delayed skeletal maturation, Abnorma... ORPHA:1458
Spondyloenchondrodysplasia With Immune Dysregulation
Increased intervertebral space, Metaphyseal widening, T lymphocytopenia, Irregular vertebral endp... OMIM:607944
Raine Syndrome
Increased bone mineral density, Bowing of the long bones, Short stature, Micromelia, Micrognathia... OMIM:259775
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Maternal diabetes, Micrognathia, Carious teeth, Flared metaphysis,... ORPHA:93346
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalac... ORPHA:1652
Specific Granule Deficiency 1
Low neutrophil alkaline phosphatase OMIM:245480
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Clubbing, Hypoalbuminemia OMIM:614441
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Perianal abscess, Oral ulcer, Weight loss,... OMIM:301074
Muenke Syndrome
Tarsal synostosis, Macrocephaly, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis... ORPHA:53271
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Micrognathia, Bifid... OMIM:256520
Intermediate Nemaline Myopathy
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Difficulty walking,... ORPHA:171433
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Broad hallux, Microcephaly, Shortening of all distal phalanges of the fingers, Growth delay, Elev... OMIM:614749
Juvenile Polyposis Of Infancy
Refractory anemia, Cachexia, High, narrow palate, Midclavicular hypoplasia, Clubbing of fingers, ... ORPHA:79076
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Mandibular prognathia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Neutropeni... OMIM:271510
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Micromelia, Adducted thumb, Secondary microcephaly, Bilateral single transverse... ORPHA:50810
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... ORPHA:570
49,Xyyyy Syndrome
Eunuchoid habitus, Abnormality of the epiphyses of the elbow, Large carpal bones, Micrognathia, L... ORPHA:99330
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... OMIM:154780
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Sclerosteosis 1
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial palsy secondary to... OMIM:269500
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Finger syndactyly, Toe syndactyly, Small scrotum, Joint stiffness, Micrognathia, C... ORPHA:1300
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Short attention span, Hyperactivity, Small for gestational age, Single... ORPHA:73272
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Micromelia, Short neck, Hypoplasia of the maxilla, Increased... ORPHA:1798
S-Adenosylhomocysteine Hydrolase Deficiency
Pes planus, Short attention span, Elevated circulating creatine kinase concentration, Abnormal ci... ORPHA:88618
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee flexion contracture, C... OMIM:151050
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Pes planus, Short femur, Short stature, Talipes, Micrognathia, Talipes equinovarus, Broad distal ... OMIM:300990
Endove Syndrome, Limb-Brain Type
Joint laxity, Toe syndactyly, Osteomyelitis, Aplasia of the 3rd finger, Microcephaly, Triangular ... OMIM:619218
Intellectual Disability, Buenos-Aires Type
Short stature, Microcephaly, Spastic gait, Pectus carinatum, Reduced bone mineral density, Abnorm... ORPHA:3079
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Wide capital femoral epiphyses, Small for gestational age, Lumbar hyperlordosi... ORPHA:1830
Trisomy 13
Cryptorchidism, Postaxial hand polydactyly, Kyphosis, Abnormal rib morphology, Abnormal pelvic gi... ORPHA:3378
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Waddling gait, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Micro... OMIM:614813
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Stiff neck, Overlapping fingers, Micrognathia, Femoral bowing, Short long bon... OMIM:617022
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Overlapping fingers, Hypospadias, Rocker bottom foot, Craniosynost... OMIM:301056
Ménétrier Disease
Anorexia, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu... OMIM:602418
Weill-Marchesani Syndrome 1
Thin bony cortex, Lumbar hyperlordosis, Short stature, Proportionate short stature, Joint stiffne... OMIM:277600
Immunodeficiency 20
Reduced natural killer cell count, Recurrent sinusitis OMIM:615707
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Smith-Lemli-Opitz Syndrome
Dental crowding, Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndact... OMIM:270400
Cerebrotendinous Xanthomatosis
Osteopenia, Abnormal circulating enzyme concentration or activity, Abnormality of the vertebral s... ORPHA:909
X-Linked Intellectual Disability, Snyder Type
Long toe, Arachnodactyly, Recurrent fractures, Hypospadias, Short stature, Pectus excavatum, Cryp... ORPHA:3063
Momo Syndrome
Short stature, Femoral bowing, Macrocephaly, Large hands, Short sternum, Overgrowth, Abnormal bon... ORPHA:2563
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Clinodactyly of the 5th finger, Rocker bottom foot, Microcephaly OMIM:618506
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,... ORPHA:37042
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Pectus excavatum, Reduced bone mineral density, Long fibula, Cognitive impairment, Abnormal metap... ORPHA:935
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Brachyolmia Type 3
Barrel-shaped chest, Kyphosis, Proximal femoral metaphyseal irregularity, Childhood-onset short-t... OMIM:113500
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Confusion, Ankle flexion contracture, Abnormal erythrocyte enzyme lev... ORPHA:100924
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bilateral single transverse palmar creases, Proximal placement of thumb, Abnormal thumb morpholog... ORPHA:1120
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Cleft palate, Anemia, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutropenia,... OMIM:616738
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Juvenile Polyposis Syndrome
Clubbing, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia OMIM:174900
Trichohepatoneurodevelopmental Syndrome
Joint laxity, Overlapping toe, Microcephaly, Pectus excavatum, Hip dislocation, Absent Achilles r... OMIM:618268
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Postaxial polydactyly, Microcephaly, Growth delay, Elevated circul... OMIM:614576
Maffucci Syndrome
Short stature, Recurrent fractures, Bone pain, Osteolysis, Ovarian neoplasm, Growth delay, Multip... ORPHA:163634
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Macroorchidism, Recurrent fractures, Osteomalacia, Accelerated s... ORPHA:562
Glycosylphosphatidylinositol Biosynthesis Defect 25
Low alkaline phosphatase OMIM:619985
Chylomicron Retention Disease
Impaired vibratory sensation, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotrigl... OMIM:246700
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Delayed skeletal maturation, Small hand, Abnormal rib morphology, Short foot, Micrope... ORPHA:488434
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Congenital hip dislocation, Single transverse palmar crease, Rocker bottom foot, Short 5th finger... OMIM:133705
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia... OMIM:212780
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Sandal gap, Camptodactyly of finger, Joint hypermobility, Rocker bottom foot, Micr... OMIM:619951
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Vertebral ... ORPHA:2970
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... OMIM:605282
Floating-Harbor Syndrome
Short middle phalanx of the 2nd finger, Glandular hypospadias, Clinodactyly of the 5th finger, Sh... OMIM:136140
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Neutropenia, Clinod... ORPHA:193
Symphalangism, Proximal, 1A
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... OMIM:185800
Rubinstein-Taybi Syndrome 2
Syndactyly, Hyperactivity, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclu... OMIM:613684
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Inability to walk, Intrauterine growth retardation, Recurrent fractures OMIM:620368
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the vertebral bodi... ORPHA:2064
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Elevated hepatic transaminase, Craniosynostosis, Tapered finger, Micrognathia, ... OMIM:620005
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short stature, Microcephaly, Inability to walk, Shortening of all distal phalanges of the fingers... OMIM:614207
Peroxisome Biogenesis Disorder 5A (Zellweger)
Persistent open anterior fontanelle, Single transverse palmar crease, Micrognathia, Elevated gamm... OMIM:614866
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Bone cy... ORPHA:2848
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Flexion contracture, Absent phalangeal crease, Antec... OMIM:618469
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Clitoral hypertrophy, Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormali... ORPHA:313855
Estrogen Resistance Syndrome
Osteopenia, Marked delay in bone age, Enlarged polycystic ovaries, Elevated tissue non-specific a... ORPHA:785
Mosaic Trisomy 9
Hypoplasia of penis, Micromelia, Micrognathia, Hemivertebrae, Finger clinodactyly, Abnormality of... ORPHA:99776
Lathosterolosis
Elevated hepatic transaminase, Toe syndactyly, Micrognathia, Microcephaly, Intrahepatic cholestas... OMIM:607330
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Hypoammonemia, Micrognathia, Deep philtrum, Gingivitis, P... ORPHA:534
Laron Syndrome
Delayed eruption of teeth, Hypoglycemia, Micrognathia, Short toe, Abnormality of the elbow, Osteo... ORPHA:633
Trisomy 1Q
Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Small scrotum, Preaxi... ORPHA:261344
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Micrognathia, Protruding tongue, T lymphocytopenia, Macroglossia, M... OMIM:242860
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Pancytopenia, Small for gestational age, Hypoglycemia, Pectus excavatum, Rickets, Red... OMIM:613658
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... ORPHA:3186
Pycnodysostosis
Increased bone mineral density, Persistent open anterior fontanelle, Wormian bones, Aplastic clav... OMIM:265800
Hurler Syndrome
Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Limitation of joint mobilit... ORPHA:93473
Jacobsen Syndrome
Hypospadias, Missing ribs, Pectus excavatum, Micrognathia, Cryptorchidism, Flexion contracture, M... OMIM:147791
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... OMIM:616007
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Kinsship Syndrome
Osteopenia, Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Dow... OMIM:619297
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Micrognathia, Horizontal ribs, Hyperhomocystinemia, Be... OMIM:614857
Vascular Malformation, Primary Intraosseous
Elevated circulating alkaline phosphatase concentration OMIM:606893
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Broad ribs, Abnormal repetitive mannerisms, Broad metacarpals, Tapered finger, Hyperlordosis, Cle... OMIM:301066
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-posi... OMIM:619510
Cole-Carpenter Syndrome 1
Osteopenia, Short stature, Recurrent fractures, Micrognathia, Vertebral compression fracture, Red... OMIM:112240
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Tapered finger, Short toe, Athetosis, Elevated circulating alkaline phosphatase concentration, De... OMIM:239300
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia... OMIM:251880
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid... ORPHA:93357
Gaucher Disease, Type I
Bone pain, Pathologic fracture, Vertebral compression fracture, Avascular necrosis, Erlenmeyer fl... OMIM:230800
Ulnar-Mammary Syndrome
Abnormal clavicle morphology, Abnormal morphology of the radius, Hypoplasia of penis, Short statu... ORPHA:3138
Alagille Syndrome
Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Delayed skeletal maturation, Abnormal rib m... ORPHA:52
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormality of the hand, Abnormal foot morphology, Bone cyst, Gait disturbance, Pathologic fracture OMIM:221770
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Radio-Renal Syndrome
Severe short stature, Micromelia, Micrognathia, Hypoplasia of the radius, Abnormal rib morphology... ORPHA:3015
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, High palate, T... ORPHA:84
Harrod Syndrome
Arachnodactyly, Hypospadias, Microcephaly, Cryptorchidism, Kyphosis, Abnormal shoulder morphology... ORPHA:2115
Muckle-Wells Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Clubbing of fingers, Polyart... OMIM:191900
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short thorax, ... OMIM:617102
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... OMIM:607634
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Pes planus, Talipes, Short stature, Miss... ORPHA:2308
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent fractures, Craniosynostosis, Scoliosis, Joint hypermobility OMIM:147060
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Accessory oral frenulum, Short thorax, Osteolysis involving bones of the upper limbs,... ORPHA:88630
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia, Clubbing, Clubbing of fingers, Hypokalemia, Paresthesia, Hypocalcemia, Hypoma... OMIM:175500
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Rhizomelia, Lumbar hyperlordosis, Wide anterior fontanel, Kyphosis, Disprop... OMIM:616482
Alpha-Mannosidosis, Infantile Form
Osteopenia, Thickened ribs, Pectus carinatum, Cortical thickening of long bone diaphyses, Hypopla... ORPHA:309282
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Abnormal form of the vertebral ... ORPHA:2636
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hyperactivity, Tented upper lip vermilion, Ataxia, Elevated c... OMIM:615673
Tarp Syndrome
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Single transverse palm... OMIM:311900
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Osteootohepatoenteric Syndrome
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Reduced bone mineral de... OMIM:619377
Ivic Syndrome
Aplastic clavicle, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the radius, Short thumb... ORPHA:2307
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Missing ribs, Precocious puberty, Postnatal growth ... OMIM:304050
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Micrognathia, Thrombo... OMIM:259720
Sifrim-Hitz-Weiss Syndrome
Ambiguous genitalia, Hypogonadotropic hypogonadism, Short stature, Tapered finger, Cryptorchidism... OMIM:617159
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Short stature, Proportionate short stature, Joint stiffne... OMIM:608328
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb... OMIM:252940
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Small scrotum, Short stature, Abnormal rib morphology, Hemivertebrae, Abnorm... ORPHA:2234
Kbg Syndrome
Vertebral fusion, Syndactyly, Short stature, Single transverse palmar crease, Microcephaly, Episp... OMIM:148050
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Hypospadias, Microcephaly, Abnormal rib morpholo... ORPHA:276422
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Abnormal circulating lipid concentration, Ataxia, Diabetes mellitus, Insulin re... OMIM:616541
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Short stature, Broad femoral neck, Broad ischia, Macrocephaly, Diaphyseal ... OMIM:619727
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia ORPHA:67
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypo... OMIM:619055
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Joint laxity, Short stature, Ataxia, Microcephaly, Flared metaphysis, Advanced ossification of ca... OMIM:610442
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Craniosynostosis, Micrognathia, Rib fusion, Obesity, Cleft palate, Choreoathetosis, Han... ORPHA:261197
Birk-Landau-Perez Syndrome
Camptocormia, Failure to thrive in infancy, Dystonia, Hyperkalemia, Limb ataxia, Choreoathetosis,... OMIM:617595
Mosaic Trisomy 1
Thoracic scoliosis, Single transverse palmar crease, Finger clinodactyly, Micropenis, Absent dist... ORPHA:1692
Mannosidosis, Alpha B, Lysosomal
Mandibular prognathia, Splenomegaly, Increased vertebral height, Vacuolated lymphocytes, Gingival... OMIM:248500
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Flexion contracture, Calcaneovalgus deformity, Pectus carinatum, Webbed penis, Mic... ORPHA:261537
Developmental And Epileptic Encephalopathy 80
Micrognathia, Tapered finger, Growth delay, Elevated circulating alkaline phosphatase concentrati... OMIM:618580
Cinca Syndrome
Joint dislocation, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating ... ORPHA:1451
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hypoglycemia, Progressive neurologic deterioration, Hyperammonemia, Dy... OMIM:618253
Sapho Syndrome
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Abnormal thorax morphol... ORPHA:793
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Growth delay, Increa... OMIM:612301
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Osteoporosis, Dysmetria, Gait ataxia, Elevated circulating alkaline phosphatase conce... ORPHA:529665
Floating-Harbor Syndrome
Enlarged joints, Humeral pseudarthrosis, Dislocated radial head, Short metacarpal, Hypospadias, S... ORPHA:2044
Distal Duplication 18Q
Arachnodactyly, Camptodactyly of finger, Abnormal dental morphology, Micrognathia, Pectus excavat... ORPHA:1716
Hand-Foot-Genital Syndrome
Bifid scrotum, Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Clinoda... OMIM:140000
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Fibronectin Glomerulopathy
Hypoalbuminemia, Pedal edema ORPHA:84090
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Narrow chest, Vertebral fus... OMIM:213980
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ulnar deviation of the hand, Hypospadias, Rocker bottom foot, Single transverse palmar crease, Mi... OMIM:214100
Aspartylglucosaminuria
Mandibular prognathia, Pes planus, Abnormal morphology of ulna, Abnormality of the dentition, Car... ORPHA:93
Ataxia-Telangiectasia
Lymphopenia, Diabetes mellitus, Ataxia, Tremor, Gait disturbance, Type II diabetes mellitus, Cogn... ORPHA:100
Xfe Progeroid Syndrome
Cachexia, Premature loss of teeth, Hypoalbuminemia, Scoliosis, Enamel hypoplasia, Failure to thri... OMIM:610965
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Rocker bottom foot, Primary microcephaly, Intrauterine growth retardation, Add... ORPHA:89844
Congenital Myopathy 22B, Severe Fetal
Waddling gait, Hip contracture, Thoracic scoliosis, Scapular winging, Limb joint contracture, Sho... OMIM:620369
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Craniosynostosis, Micrognathia, Pectus excavatum, Precocious puberty, Delayed skeleta... ORPHA:369837
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Micrognathi... ORPHA:263508
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral fusion, Severe short stature, Block vertebrae, Short stature, Kyphoscoliosis, Rib fusio... OMIM:277300
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Microcephaly, Cryptorchidism, Postaxial hand polydactyly, Hemivertebrae, 2-3 to... OMIM:264480
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine... OMIM:620366
Developmental And Epileptic Encephalopathy 29
Short stature, Rocker bottom foot, Microcephaly, Hip dislocation, Intrauterine growth retardation OMIM:616339
Hypophosphatemic Rickets, Autosomal Dominant
Short stature, Osteomalacia, Abnormality of the lower limb, Rickets, Bone pain, Elevated circulat... OMIM:193100
Multiple Synostoses Syndrome 4
Pes planus, Otosclerosis, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly OMIM:617898
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Rocker bottom foot, Microcephaly, Micrognathia, Flexion contracture, Camptodactyly OMIM:604273
Lowe Oculocerebrorenal Syndrome
Increased circulating lactate dehydrogenase concentration, Short stature, Camptodactyly of finger... OMIM:309000
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Abnormal clavicle morphology, Microcephaly, Metaphyseal chondrodysplasia, Tibial bowing, Femoral ... ORPHA:85165
Glycosylphosphatidylinositol Biosynthesis Defect 11
Elevated circulating alkaline phosphatase concentration OMIM:616025
Cardiofaciocutaneous Syndrome
Failure to thrive in infancy, Abnormal morphology of ulna, Short neck, Pectus excavatum, Submucou... ORPHA:1340
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... OMIM:618108
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Autoamputation of digits, Broad-based gait, Short stature, Elevated circul... OMIM:256810
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Elevated circulating alkaline phosphatase concentration OMIM:615424
Immunodeficiency 54
Splenomegaly, Failure to thrive, Reduced natural killer cell count OMIM:609981
Oculodentodigital Dysplasia
Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormal form of the vertebral... ORPHA:2710
Crisponi/Cold-Induced Sweating Syndrome 1
Pes planus, Kyphoscoliosis, Micrognathia, Carious teeth, Trismus, Tapered finger, Short neck, Elb... OMIM:272430
Meckel Syndrome 12
Rocker bottom foot, Micrognathia, Microcephaly, Antecubital pterygium, Hypoplasia of the uterus, ... OMIM:616258
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... ORPHA:66624
Kury-Isidor Syndrome
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Growth delay, Hip dysplasia, ... OMIM:619762
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... OMIM:212050
Hyperparathyroidism, Neonatal Severe
Narrow chest, Recurrent fractures, Metaphyseal irregularity OMIM:239200
Mowat-Wilson Syndrome
Bifid scrotum, Flexion contracture, Calcaneovalgus deformity, Pectus carinatum, Webbed penis, Mic... ORPHA:2152
Orofaciodigital Syndrome Xiv
Microretrognathia, Broad hallux, Micrognathia, Microcephaly, Epispadias, Postaxial hand polydacty... OMIM:615948
Intellectual Disability-Strabismus Syndrome
Hypospadias, Rocker bottom foot, Short stature, Micrognathia, Microcephaly, Cryptorchidism, Achil... ORPHA:363528
Sandestig-Stefanova Syndrome
Prominent metopic ridge, Rocker bottom foot, Primary microcephaly, Camptodactyly, Intrauterine gr... OMIM:618804
Mpi-Cdg
Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Macroglossia, Hy... ORPHA:85443
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Decreased mean corpuscu... OMIM:611590
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Single transverse palmar crease, Rocker bottom foot, Microcephaly, Birth length less than 3rd per... OMIM:618622
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Talipes, Recurrent fractures, Lower limb asymmetry, Upper limb asymmetry, Reduced bone mineral de... ORPHA:137608
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Gm1 Gangliosidosis Type 1
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Flared iliac wing, Short long bon... ORPHA:79255
Osteopathia Striata With Cranial Sclerosis
Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, Clinodactyly of the 5th finger, B... OMIM:300373
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Cyanosis, Aggressive behavior, Impaired pain sensation, Hyperlipidemia, Hyperkalemi... ORPHA:293987
H Syndrome
Hallux valgus, Pes planus, Short stature, Recurrent fractures, Delayed skeletal maturation, Delay... ORPHA:168569
Grange Syndrome
Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Brac... OMIM:602531
Camurati-Engelmann Disease
Mandibular prognathia, Waddling gait, Increased bone mineral density, Carious teeth, Diaphyseal s... OMIM:131300
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Long toe, Overlapping toe, Single transverse palmar crease, Pectus excavatum, Postn... ORPHA:254528
Classic Galactosemia
Ataxia, Hypoglycemia, Postural tremor, Abnormal erythrocyte enzyme level, Osteoporosis, Reduced b... ORPHA:79239
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Anterior rib cuppin... OMIM:102700
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Recurrent joint dislocation, Short stature, Recurrent fractures, Reduced bone mineral density, Sc... OMIM:619115
Mohr-Tranebjaerg Syndrome
Intrinsic hand muscle atrophy, Increased susceptibility to fractures OMIM:304700
Fetal Akinesia Deformation Sequence 3
Talipes, Overlapping fingers, Rocker bottom foot, Micrognathia OMIM:618389
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Choreoathetosi... OMIM:234100
Kagami-Ogata Syndrome
Long clavicles, Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers, Flexion contracture, Thin... OMIM:608149
Oslam Syndrome
Abnormality of neutrophils, Carious teeth, Radioulnar synostosis, Increased mean corpuscular volu... ORPHA:2760
Acromelic Frontonasal Dysostosis
Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia... OMIM:603671
Smith-Kingsmore Syndrome
Smooth philtrum, Thin upper lip vermilion, Rhizomelia, Thoracic hypoplasia, Hypoglycemia, Large f... OMIM:616638
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Osteoporosis, Bone pain, Gait disturbance, Vertebral compression f... ORPHA:85193
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactive ... OMIM:612852
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Micrognathia, Short neck, Choreoathetosis, High palate, Short philtrum, Clinodactyly of the 5th f... OMIM:620224
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Abnormal thorax morphology, Elevat... OMIM:302960
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... ORPHA:2712
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Pa... OMIM:242150
Neurofibromatosis Type 1
Short stature, Recurrent fractures, Ataxia, Joint stiffness, Precocious puberty, Cryptorchidism, ... ORPHA:636
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Oral mucosal blisters, Palmoplantar keratoderma, Hypoalbuminemia, Smooth tongue... ORPHA:79396
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79303
Werner Syndrome
Increased bone mineral density, Short stature, Rocker bottom foot, Joint stiffness, Abnormal thor... ORPHA:902
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Hypoglycemia, Kyphoscoliosis, Hip dislocation, Retrognathia, High palate, Neutropenia... OMIM:618005
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hypokalemia, Gait... ORPHA:682
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc... OMIM:619381
Monosomy 9Q22.3
Ovarian fibroma, Accelerated skeletal maturation, Pectus excavatum, Palmar pits, Kyphosis, Planta... ORPHA:77301
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Ulnar bowing, Poorly ossified ver... OMIM:619135
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Bilateral single transverse palmar ... ORPHA:1116
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi... OMIM:602875
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Neuropathic arthropathy, Inability to walk, Limb pain, Steppage gait, Gait imbalan... ORPHA:36386
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Micrognathia, Narrow mouth, Hyperlipidemia, Insulin-resistant diabetes mellitus,... OMIM:608612
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen... ORPHA:49042
Myhre Syndrome
Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Short stature, Ataxia, Cryptorchidism, Shor... OMIM:139210
1P36 Deletion Syndrome
Hypoplasia of penis, Clinodactyly of the 5th finger, Hypospadias, Short stature, Cryptorchidism, ... ORPHA:1606
Bile Acid Synthesis Defect, Congenital, 3
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... OMIM:613812
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f... OMIM:613489
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Increas... OMIM:604250
Liver Failure, Infantile, Transient
Irritability, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophi... OMIM:243700
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Micrognathia, Pectus carinatum, Vertebral segmentation defect, Clinodactyly ... ORPHA:1507
Den Hoed-De Boer-Voisin Syndrome
Tremor, Widely spaced teeth, Decreased body weight, Abnormal repetitive mannerisms, Amelogenesis ... OMIM:619229
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Flexion contracture, Calcaneovalgus deformity, Pectus carinatum, Webbed penis, Mic... ORPHA:261552
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Paresthesia, Thr... ORPHA:71493
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Hypoalbuminemia, Hepatosplenomegaly ORPHA:367
Renal Hypoplasia, Bilateral
Hyponatremia, Small for gestational age, Hyperkalemia, Glycosuria, Lethargy, Failure to thrive, A... ORPHA:97362
Dyskeratosis Congenita
Short stature, Recurrent fractures, Osteoporosis, Abnormal morphology of female internal genitali... ORPHA:1775
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating aspartate aminotransferase concentration, Portal hypertension, Jaundice, Ele... OMIM:619662
Syndromic Diarrhea
Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus... ORPHA:84064
Leopard Syndrome 1
Scapular winging, Hypospadias, Short stature, Limited elbow movement, Missing ribs, Pectus excava... OMIM:151100
Cornelia De Lange Syndrome
Micromelia, Micrognathia, Proximal placement of thumb, Short neck, Downturned corners of mouth, W... ORPHA:199
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dystonia, Ataxia, Micrognathia, Head titubation, Kyphosis, Dysmetria, Knee flexion contracture, B... OMIM:619708
Microphthalmia, Syndromic 3
Vertebral fusion, Hypogonadotropic hypogonadism, Hypospadias, Short stature, Missing ribs, Postna... OMIM:206900
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Weigh... ORPHA:171
Vacterl/Vater Association
Bifid scrotum, Finger syndactyly, Hypoplasia of penis, Hypospadias, Preaxial hand polydactyly, Cr... ORPHA:887
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Progressive neurologic deterioration, Hypoalbuminemia, Hyperalaninemia, Failure to ... OMIM:618329
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... ORPHA:464329
Tarp Syndrome
Finger syndactyly, Broad-based gait, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pec... ORPHA:2886
Osteogenesis Imperfecta, Type Xx
Kyphoscoliosis, Microcephaly, Multiple prenatal fractures, Asymmetry of the thorax, Disproportion... OMIM:618644
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Diabetes mellitus, Confusion, Elevated circulating C-reactive protein concentration... ORPHA:36238
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis ORPHA:2010
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Bilateral cleft palate, Anemia of inadequate production, Absent thumb, Un... OMIM:614900
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased... OMIM:617093
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Elevated hepatic transaminase, Sandal gap, Delayed cranial suture closure, Short stat... OMIM:619127
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal clavicle morphology, Hypospadias, Tarsal synostosis, Aplastic clavicle, Micrognathia, Wi... ORPHA:85199
Chromosome 6Pter-P24 Deletion Syndrome
Joint laxity, Broad toe, Rocker bottom foot, Pectus excavatum, Short 2nd toe, Hip dysplasia, Macr... OMIM:612582
Aspergillosis
Sinusitis, Eosinophilia, Abnormal rib morphology, Abnormal long bone morphology, Abnormality of t... ORPHA:1163
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short stature, Abnormal rib morphology, Azoospermia, Vertebral segmentation defect, Bicornuate ut... ORPHA:2578
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Epiphyseal dysplasia, Hyponatremia, Congenital hip dislocation, Calcinosis, Micrognat... OMIM:617913
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Dental crowding, Micrognathia, High palate, Hyperglycemia, Premature loss of teeth, C... OMIM:248370
Pseudohypoaldosteronism Type 2
Hyperkalemia, Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Talipes, Micromelia, Aplasia of the... ORPHA:2879
Wilson Disease
Acute hepatic failure, Elevated hepatic transaminase, Abnormality of the hand, Jaundice, Bone pai... ORPHA:905
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypoalbuminemia OMIM:256300
Trisomy 18
Microretrognathia, Short stature, Camptodactyly of finger, Microcephaly, Abnormality of the lower... ORPHA:3380
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Recurrent fractures, Pectus carinatum OMIM:618107
Hypoadrenocorticism, Familial
Hyponatremia, Cyanosis, Hyperkalemia, Hypoglycemia OMIM:240200
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta... OMIM:225400
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Short stature, Rocker bottom foot, Single transverse pal... OMIM:272950
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... OMIM:617052
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Abnormal vertebral ... ORPHA:280
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia OMIM:602579
Aymé-Gripp Syndrome
Prominent metopic ridge, Short stature, Rocker bottom foot, Craniosynostosis, Tapered finger, Pos... ORPHA:1272
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Abnormally low T cell rece... ORPHA:276
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Hypoalbuminemia ORPHA:656
Acute Adrenal Insufficiency
Normocytic anemia, Hyponatremia, Salt craving, Hypoglycemia, Hypercalcemia, Anorexia, Hyperkalemi... ORPHA:95409
Craniofrontonasal Syndrome
Joint laxity, Toe syndactyly, Broad hallux, Down-sloping shoulders, Hypospadias, Short stature, P... OMIM:304110
Noonan Syndrome 14
Pes planus, Scapular winging, Short neck, Pectus excavatum, Kyphosis, High, narrow palate, Pectus... OMIM:619745
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Intermittent j... OMIM:601847
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Delayed skeletal maturation... ORPHA:77259
Prader-Willi Syndrome
Osteopenia, Downturned corners of mouth, Short palm, Syndactyly, Acromicria, Osteoporosis, Obesit... OMIM:176270
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Endocrine-Cerebroosteodysplasia
Small scrotum, Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, T... OMIM:612651
Cholesteryl Ester Storage Disease
Acute hepatic failure, Elevated circulating aspartate aminotransferase concentration, Portal hype... OMIM:278000
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... OMIM:119800
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia, Impaired pain sensation ORPHA:2582
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Chorea, Oral ulcer, Leukopenia, Lymphopenia, Thrombocytopenia OMIM:301080
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Arachnodactyly, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th fi... ORPHA:1883
Incontinentia Pigmenti
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Eosinophilia, Abnormal ... ORPHA:464
Pallister-Hall Syndrome
Hemivertebrae, Micropenis, Distal shortening of limbs, Syndactyly, Mesoaxial foot polydactyly, Sh... OMIM:146510
Addison Disease
Normocytic anemia, Hyponatremia, Salt craving, Hypoglycemia, Hypercalcemia, Anorexia, Thiamine-re... ORPHA:85138
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Failure to thrive in infancy, Abnormal distal phalanx mo... ORPHA:783
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Micromelia, Conical incisor, Narrow chest, Microdontia, Synostos... ORPHA:289
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Intrauterin... OMIM:194190
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Chromosome 18Q Deletion Syndrome
Joint laxity, Pes planus, Broad-based gait, Toe syndactyly, Overlapping toe, Rocker bottom foot, ... OMIM:601808
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Pectus excavatum of inferior sternum, Small scrotum, Rocker bottom foot, Tapered finger, Shawl sc... OMIM:601353
Cryptogenic Organizing Pneumonia
Neutrophilia, Cyanosis, Anorexia, Elevated circulating C-reactive protein concentration, Leukocyt... ORPHA:1302
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Recurrent fractures, Growth delay, Osteopetrosis, Sclerotic verte... OMIM:611490
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Edema of the dorsum of feet, Rocker bottom foot, Single ... ORPHA:521426
Lymphangiectasia, Intestinal
Lymphopenia, Prominent floating ribs, Neonatal hypoproteinemia, Pedal edema OMIM:152800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Micrognathia, Microcephaly, Birth length greater than 97th percentile, Flexion c... OMIM:300868
Propionic Acidemia
Pancytopenia, Dystonia, Hypoglycemia, Osteoporosis, Hyperammonemia, Anemia, Hyperglycinemia, Neut... OMIM:606054
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Tip-toe gait, Gait disturbance, Increased susceptibility to fractures ORPHA:216866
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Micrognathia, Cryptorchidism, 2-3 toe syndactyly, Coronal cl... OMIM:620025
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Elevated circulating alkaline phos... ORPHA:263501
Hyperchlorhidrosis, Isolated
Hyponatremia, Failure to thrive, Hyperkalemia OMIM:143860
Omenn Syndrome
Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Short toe, Abnormal metaphysis morph... ORPHA:39041
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Failure to thrive, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkale... ORPHA:293978
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hemivertebrae, Femoral bowing, Decreased circulating renin level, Hyponatremia, Arachnodactyly, U... OMIM:201750
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad-based gait, Elevated circulating aspartate aminotransferase concentration, Long foot, Broad... OMIM:280000
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single transverse palmar crease, Long fi... OMIM:617527
Kallmann Syndrome
Pes planus, Hypoplasia of penis, Hypogonadotropic hypogonadism, Recurrent fractures, Ataxia, Cryp... ORPHA:478
Aggressive Systemic Mastocytosis
Portal hypertension, Osteoporosis, Osteolysis, Bone pain, Elevated circulating alkaline phosphata... ORPHA:98850
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... OMIM:184400
Mandibuloacral Dysplasia
Hypertriglyceridemia, Dental crowding, Micrognathia, Increased circulating free fatty acid level,... ORPHA:2457
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Simpson-Golabi-Behmel Syndrome
Hypoplasia of penis, Congenital hip dislocation, Accelerated skeletal maturation, Vertebral segme... ORPHA:373
Lysosomal Acid Lipase Deficiency
Hyponatremia, Psychomotor deterioration, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, ... ORPHA:275761
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatic failure, Elevated alkaline phosphatase of bone origin, Pro... OMIM:616828
Monosomy 9P
Hypospadias, Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Cryptorc... ORPHA:261112
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Splenomegaly, Cleft palate, Reduced bone mineral density, Leukopenia, Lymphopenia OMIM:620210
Rabson-Mendenhall Syndrome
Mandibular prognathia, Impaired glucose tolerance, Dental crowding, Abnormality of the dentition,... ORPHA:769
Kagami-Ogata Syndrome
Kyphoscoliosis, Coxa valga, Micrognathia, Postnatal growth retardation, Limitation of joint mobil... ORPHA:254519
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Neutrophilia, Small for gestational age, Overlapping toe, Ataxia, Microcyt... ORPHA:99843
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Bifid uterus, Epispadias, Cr... OMIM:258040
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Inability to walk, Hyperka... OMIM:608885
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal preputium morphology, Abnorma... ORPHA:2907
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Sinusitis, Hypertriglyceridemia, Splenomegaly, Anemia, Arthritis, Finger swell... OMIM:617591
Gallbladder Disease 1
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration OMIM:600803
Shwachman-Diamond Syndrome 2
Normocytic anemia, Anterior rib cupping, Metaphyseal widening, Metaphyseal irregularity, High pal... OMIM:617941
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Wide cranial sutures, Broad long bones, Dental crowding, Fifth finger ... OMIM:257850
Septopreoptic Holoprosencephaly
Precocious puberty, Abnormal rib morphology, Abnormal vertebral morphology, Microcephaly ORPHA:280195
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Pes planus, Short stature, Rocker bottom foot, Micrognathia, Tapered finger OMIM:620070
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Micrognathia, Abnormal rib morphology, Hypoplasia of the uterus, Azoospermia, Bico... OMIM:601076
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Failure to thrive, Ataxia, Pure red cell aplasia, Autoimm... OMIM:613179
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level OMIM:203400
Hemorrhagic Fever-Renal Syndrome
Back pain, Confusion, Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, ... ORPHA:340
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micrognathia, Short neck, Talipes calcaneovalgus, Abnormal form of t... ORPHA:818
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Chorea, Oral ulcer, Polyarticular arthritis, Lymphopenia, Thrombocytopenia OMIM:616744
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Thickened ribs, Kyphoscoliosis, Splenomegaly, Ovoid thoracolumbar vertebrae, Motor... OMIM:252930
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Elevated circulating alkaline phosphatase concentration OMIM:615422
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Severe short stature, Microcephaly, Wide anterior fontanel, Hip dislocation, Joint ... ORPHA:90349
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi... ORPHA:1765
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Hypochromic anemia, Thrombocytosis, Failure to thrive OMIM:618213
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... ORPHA:3103
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level OMIM:610600
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Rib fusion, Hemivertebrae, Disproportionate short-trunk short stature, Verteb... OMIM:608681
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Hyperkalemia, Highly elevated creatine kinase, Hyperphos... ORPHA:99845
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Pedal edema, Increased alpha-globulin, Hypoal... ORPHA:86816
Ataxia-Telangiectasia
Failure to thrive, Sinusitis, Ataxia, Diabetes mellitus, Elevated circulating alpha-fetoprotein c... OMIM:208900
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture OMIM:616867
Gapo Syndrome
Mandibular prognathia, Abnormal clavicle morphology, Delayed eruption of teeth, Micrognathia, Abn... ORPHA:2067
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Confusion, Leukocytosis, Depression, Anterior open-bite malocclusion, Thrombocytopenia ORPHA:83601
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micrognathia, Microcephaly, Scoliosis, Int... OMIM:616038
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Beta-Thalassemia Intermedia
Osteopenia, Jaundice, Osteoporosis, Increased susceptibility to fractures, Reduced bone mineral d... ORPHA:231222
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Pes planus, Hypoplasia of the maxilla, Carious teeth, Posterior wedgin... ORPHA:50814
Hereditary Sensory And Autonomic Neuropathy Type 4
Impaired temperature sensation, Painless fractures due to injury, Premature loss of teeth, Self-m... ORPHA:642
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Exercise-Induced Malignant Hyperthermia
Ataxia, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphospha... ORPHA:466650
Khan-Khan-Katsanis Syndrome
Lymphopenia, Sacral dimple, Tented upper lip vermilion, Postaxial polydactyly, Micrognathia, Dela... OMIM:618460
Charge Syndrome
Abnormal palmar dermatoglyphics, Micrognathia, Hemivertebrae, Hand monodactyly, Hypocalcemia, Sel... OMIM:214800
Say-Barber-Miller Syndrome
Thoracic kyphoscoliosis, Craniosynostosis, Micrognathia, Carious teeth, Talipes equinovalgus, Hip... ORPHA:3132
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Recurrent fractures, Short stature, Delayed skeletal maturation, O... ORPHA:2235
Familial Glucocorticoid Deficiency
Hyponatremia, Ketotic hypoglycemia, Anorexia, Hyperkalemia, Hypoglycemic seizures, Weight loss, F... ORPHA:361
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased circulating reni... ORPHA:171876
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the gingiva, Tibial bowing... ORPHA:798
Fetal Akinesia Deformation Sequence 1
Hip contracture, Ulnar deviation of the hand, Elbow contracture, Camptodactyly of finger, Rocker ... OMIM:208150
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Sinusitis, Severe periodontitis, Abnormality of the dentition, Perianal a... ORPHA:2968
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Syndactyly, Down-sloping shoulders, Proportionate short stature, Pectus excavat... OMIM:227330
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Chromosome 1P36 Deletion Syndrome, Distal
Clinodactyly of the 5th finger, Abnormal external genitalia, Hypospadias, Wide anterior fontanel,... OMIM:607872
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Failure to thrive, Hyperkalemia, Hypoglycemia OMIM:614736
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level OMIM:177735
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Ethylene Glycol Poisoning
Cyanosis, Ataxia, Confusion, Hyperkalemia, Euphoria, Addictive alcohol use, Hypocalcemia ORPHA:31826
Acrofacial Dysostosis, Cincinnati Type
Short stature, Micrognathia, Microcephaly, Femoral bowing, Flared lower limb metaphysis, Acetabul... OMIM:616462
Arterial Tortuosity Syndrome
Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necrosis of the capit... ORPHA:3342
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, L... OMIM:251000
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hemivertebrae, Growth delay, ... ORPHA:77298
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyperbilirubinemi... OMIM:617156
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level ORPHA:556037
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Failure to thrive, Hyperkalemia OMIM:264350
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level ORPHA:556030
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Avascular necrosis of the capital femoral epiphysis, Elevated circulating alkaline phosphatase co... ORPHA:247691
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, Clinodact... OMIM:122470
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Pmm2-Cdg
Osteopenia, Mandibular prognathia, Failure to thrive, Pes planus, Ataxia, Thin upper lip vermilio... ORPHA:79318
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hand tremor OMIM:609153
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Progressive neurologic deteriorati... OMIM:219800
Vater/Vacterl Association
Syndactyly, Hypospadias, Absent radius, Short thumb, Postnatal growth retardation, Hypoplasia of ... OMIM:192350
Cogan Syndrome
Thrombocytosis, Leukocytosis, Anemia ORPHA:1467
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Sinusitis, T lymphocytopenia, B lymphocytopenia, Failure to thrive ORPHA:277
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Joint dislocation, Short stature, Recurrent fractures, Joint hypermobility OMIM:619120
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Thickened ribs, Progressive neurologic deterioration, Aggressive behavior, Splenom... OMIM:252920
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... ORPHA:90363
Fanconi Renotubular Syndrome 2
Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets, Bone pain OMIM:613388
Adamantinoma
Pathologic fracture, Bone pain ORPHA:55881
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath... OMIM:617237
Cyclic Neutropenia
Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Perianal abscess, Oral ulcer, G... ORPHA:2686
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Micrognathia, Ambiguous genitalia, female, Deformed humerus, Abnormality of t... ORPHA:2975
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, Persistence o... ORPHA:93325
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hyperactivity, Ataxia, Hypouricemia, Autoimmune thrombocytopenia, Ab... ORPHA:760
Cystinosis
Rickets, Hypokalemia, Gait disturbance, Hypophosphatemia, Type I diabetes mellitus, Polydipsia, F... ORPHA:213
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Mucopolysaccharidosis Type 2, Severe Form
Abnormal circulating enzyme concentration or activity, Otosclerosis, Thickened ribs, Short statur... ORPHA:217085
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Pes planus, Hypospadias, Rocker bottom foot, S... ORPHA:163979
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Micrognathia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating ferritin concentr... ORPHA:158048
Restrictive Dermopathy 1
Limb joint contracture, Rocker bottom foot, Hypospadias, Micrognathia, Kyphoscoliosis, Ankylosis,... OMIM:275210
Amelogenesis Imperfecta
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... ORPHA:88661
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Compulsive behaviors, Promi... OMIM:615873
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal circulating enzyme concentration or activity, Otosclerosis, Thickened ribs, Short statur... ORPHA:217093
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Joint hyperflexibility, Scoliosis ORPHA:2314
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Hypoalbuminemia, Hypernatremia, Palmoplantar keratoderma OMIM:615508
Hennekam Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... ORPHA:2136
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Abnormal curvature of the vertebral column, Compulsive behaviors, Abnormal repet... ORPHA:353281
Orofaciodigital Syndrome Type 4
Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate... ORPHA:2753
Cerebrocostomandibular Syndrome
Short stature, Micrognathia, Microcephaly, Kyphosis, Posterior rib gap, Bell-shaped thorax, Clino... ORPHA:1393
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Penoscrotal hypospadias, Cryptorchidism, Glandular hypospadias, Thin ribs, Blind v... ORPHA:456328
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Oral leukoplakia OMIM:620133
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Kyphosis, Osteoporosis, Obesity, Glucose intolerance, Hypokalemia, Ab... OMIM:219090
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Pectus excavatum, A... OMIM:263750
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Sneddon Syndrome
Mental deterioration, Lymphopenia, Tremor, Impaired distal tactile sensation OMIM:182410
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... ORPHA:1930
Singleton-Merten Syndrome 1
Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi... OMIM:182250
Craniolenticulosutural Dysplasia
Osteopenia, Delayed eruption of teeth, Pes planus, Thin upper lip vermilion, Delayed closure of t... OMIM:607812
Congenital Isolated Acth Deficiency
Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypoglycemic seizures ORPHA:199296
Gaucher Disease Type 3
Increased bone mineral density, Ataxia, Delayed skeletal maturation, Bone pain, Osteolysis, Incre... ORPHA:77261
Cardiospondylocarpofacial Syndrome
Joint laxity, Short stature, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Cone-sha... OMIM:157800
Gm1-Gangliosidosis, Type I
Severe short stature, Thickened ribs, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, De... OMIM:230500
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level... OMIM:613095
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... ORPHA:91547
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Failure to thrive, Elevated circulating creatine kinase concentration, Micrognathia... ORPHA:2785
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hyp... ORPHA:544482
Dextrocardia
Abnormal reproductive system morphology, Abnormal foot morphology, Congenital hip dislocation, Ab... ORPHA:1666
Histiocytosis-Lymphadenopathy Plus Syndrome
Hallux valgus, Pes planus, Hypergonadotropic hypogonadism, Camptodactyly of finger, Rocker bottom... OMIM:602782
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer... ORPHA:3226
Tarsal Coalition
Tarsal synostosis OMIM:186850
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Talipes, Short stature, Microcephaly, Postnatal gro... ORPHA:138
Mckusick-Kaufman Syndrome
Finger syndactyly, Short stature, Tarsal synostosis, Cryptorchidism, Postaxial hand polydactyly, ... ORPHA:2473
Hydrolethalus Syndrome 1
Accessory spleen, Median cleft lip, Micrognathia, Preaxial hand polydactyly, Postaxial hand polyd... OMIM:236680
Joubert Syndrome 21
Bell-shaped thorax, Ataxia, Short ribs OMIM:615636
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Microcephaly, Flexion contracture, Thin ribs, Mild short stature OMIM:614833
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Dermatog... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Dermatog... ORPHA:99228
Monosomy X
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Dermatog... ORPHA:99226
Turner Syndrome
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Dermatog... ORPHA:881
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Zttk Syndrome
Relative macrocephaly, Short stature, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion... OMIM:617140
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Lower limb dysmetria, Kyphoscoliosis, Micrognathia, Pectus excavatum, Hyperlordosis, A... ORPHA:363700
Craniosynostosis With Fibular Aplasia
Single transverse palmar crease, Craniosynostosis, Fibular aplasia OMIM:218550
Chromosome 16P13.3 Duplication Syndrome
Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Pectus excavatum, Sh... OMIM:613458
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia,... ORPHA:391673
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Tapered finger, Large for gestational age, Aggressive behavior, Rib f... ORPHA:544488
Psoriasis 14, Pustular
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Oligoarthritis... OMIM:614204
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal v... OMIM:118100
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level, Lethargy, Failure to thrive ORPHA:427
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Somatic sensory dysfunction, Ataxia, Eosinophilia, Abscess, ... OMIM:615816
Kindler Epidermolysis Bullosa
Finger syndactyly, Abnormal dental enamel morphology, Camptodactyly of finger, Premature loss of ... ORPHA:2908
Pallister-Hall Syndrome
Small scrotum, Hemivertebrae, Micropenis, Aplasia/hypoplasia of the uterus, Microretrognathia, Me... ORPHA:672
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Failure to thrive, Neonatal hypogl... ORPHA:90791
Oculodentodigital Dysplasia
Ataxia, Selective tooth agenesis, Microdontia, Carious teeth, Cleft upper lip, Clinodactyly, 4-5 ... OMIM:164200
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury... OMIM:608654
Fanconi Renotubular Syndrome 1
Elevated circulating alkaline phosphatase concentration, Rickets, Osteomalacia, Short stature OMIM:134600
East Syndrome
Salt craving, Ataxia, Inability to walk, Hypokalemia, Increased circulating renin level, Difficul... ORPHA:199343
Anterior Cutaneous Nerve Entrapment Syndrome
Back pain, Somatic sensory dysfunction, Anorexia, Leukocytosis, Impaired tactile sensation, Hyper... ORPHA:51890
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Triphalangeal thumb, Clinodactyly ... ORPHA:857
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Slender long bones with narrow di... ORPHA:2834
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Obesity, Weight loss, Hyp... ORPHA:79102
Japanese Encephalitis
Hyponatremia, Neutrophilia, Genu recurvatum, Anorexia, Tremor, Elbow flexion contracture, Opistho... ORPHA:79139
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Fryns Syndrome
Microretrognathia, Bifid scrotum, Hypospadias, Rocker bottom foot, Proximal placement of thumb, S... OMIM:229850
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria OMIM:252900
Familial Dysautonomia
Ataxia, Recurrent fractures, Osteolysis, Growth delay, Gait disturbance, Scoliosis, Avascular nec... ORPHA:1764
Coccidioidomycosis
Abnormal sperm morphology, Osteomyelitis, Broad skull, Osteolysis, Abnormal long bone morphology,... ORPHA:228123
Boomerang Dysplasia
Absent radius, Hypoplastic iliac body, Fibular aplasia OMIM:112310
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Resting tremor, Spastic gait, Gait ataxia, Abnormal pelvic girdle b... OMIM:601162
Trichothiodystrophy 3, Photosensitive
Natal tooth, Lymphopenia, Carious teeth, Neutropenia, Eclabion, Failure to thrive OMIM:616395
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Syndactyly, Postaxial polydactyly, Conjugated hyperbilirubinemia, Splenomegaly, Incre... OMIM:619534
Pallister-Killian Syndrome
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Small s... OMIM:601803
Graft Versus Host Disease
Elevated hepatic transaminase, Dupuytren contracture, Acute hepatitis, Limited elbow movement, Ja... ORPHA:39812
Atypical Werner Syndrome
Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Short pa... ORPHA:79474
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Portal hypertension, Jaundice, Elevated circulating alkaline phosp... ORPHA:567983
Familial Papillary Or Follicular Thyroid Carcinoma
Bone pain, Recurrent fractures ORPHA:319487
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Finger syndactyly, Ataxia, Tarsal synostosis, Micrognathia, Preaxi... ORPHA:2750
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of C... OMIM:615518
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Compulsiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Compulsiv... ORPHA:353277
Cockayne Syndrome A
Mandibular prognathia, Hip contracture, Ataxia, Delayed eruption of primary teeth, Carious teeth,... OMIM:216400
Bone Marrow Failure Syndrome 6
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... OMIM:618849
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Avas... ORPHA:83451
Gaucher Disease
Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Short stature, Recu... ORPHA:355
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp... OMIM:300219
Cowden Syndrome 1
Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Palmoplantar hyperkeratosis,... OMIM:158350
Autosomal Dominant Centronuclear Myopathy
Macrocephaly at birth, Proximal muscle weakness in upper limbs, Cryptorchidism, Abnormality of th... ORPHA:169189
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Microretrognathia, Flexion contr... OMIM:616866
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal paranasal sinus morphology, Lymphopenia, Hypoproteinemia OMIM:207731
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Arachnodactyly, Overlapping toe, Single transverse palmar crease, Micrognathia, P... ORPHA:83617
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Pontine Tegmental Cap Dysplasia
Ataxia, Head titubation, Rib fusion, Hemivertebrae, Dysmetria, Ankle clonus, Scoliosis, Dysphagia... OMIM:614688
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated... OMIM:605814
Adult-Onset Still Disease
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... ORPHA:829
Williams Syndrome
Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Tremor, Dysmetria, ... ORPHA:904
Immunodeficiency 59 And Hypoglycemia
Hypoglycemia, Micrognathia, Decreased proportion of class-switched memory B cells, Pectus carinat... OMIM:233600
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Osteoporosis, Hypoalbumi... ORPHA:186
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... ORPHA:331206
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Osteoporosis, Hyperkalemia, Reduced bone mineral density, Abnormal circulating chol... ORPHA:168558
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration OMIM:616026
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Osteoporosis, Hyperkalemia, Reduced bone mineral density, Abnormal circulating chol... ORPHA:289548
Systemic Mastocytosis With Associated Hematologic Neoplasm
Bone pain, Osteoporosis, Elevated total serum tryptase, Increased susceptibility to fractures ORPHA:98849
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Abnormal circulating enzyme concentration or activity, Short stature, Osteoporosis, G... ORPHA:79259
Mccune-Albright Syndrome
Precocious puberty, Craniofacial hyperostosis, Polyostotic fibrous dysplasia, Pathologic fracture OMIM:174800
Acromelic Frontonasal Dysplasia
Median cleft lip, Patellar hypoplasia, Wide mouth, Talipes equinovarus, Preaxial foot polydactyly... ORPHA:1827
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Recurrent fractures ORPHA:97290
Paternal Uniparental Disomy Of Chromosome 1
Short stature, Recurrent fractures, Craniosynostosis, Delayed puberty ORPHA:251004
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures, Short stature OMIM:268315
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Micrognathia, Pectus excavatum, Wide anterior fontanel, Deep plantar creases, Elevated circulatin... OMIM:618548
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Carious teeth, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mea... OMIM:127550
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Weight loss, Hypochloremia, Hypocapnia, Failure to thrive, Neonatal h... ORPHA:90794
Keppen-Lubinsky Syndrome
Micrognathia, Postnatal growth retardation, Microcephaly, Flexion contracture, Increased suscepti... ORPHA:435628
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal rib morphology, Cachexia, Abnormal form of the vertebral bodies ORPHA:93941
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Anorexia, Hepatosplenomegaly, Failure to thrive secondary to recurrent infections, ... ORPHA:169160
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Chronic neutropenia, Large for gestational age, Abnormal thumb morphology,... ORPHA:500095
Cystic Echinococcosis
Elevated hepatic transaminase, Abnormality of the testis size, Jaundice, Bone cyst, Ovarian cyst,... ORPHA:400
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Elevated circulating C-reactive protein concentration... OMIM:617099
Vici Syndrome
Failure to thrive, Median cleft lip, Everted upper lip vermilion, Elevated circulating creatine k... OMIM:242840
Cerebrofaciothoracic Dysplasia
Short stature, Rib fusion, Hemivertebrae, Macrocephaly, Vertebral segmentation defect, Narrow che... ORPHA:1394
Fanconi-Bickel Syndrome
Elevated circulating aspartate aminotransferase concentration, Osteomalacia, Postnatal growth ret... OMIM:227810
Isolated Biliary Atresia
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... ORPHA:30391
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Elevated hepat... ORPHA:263455
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Pearson Syndrome
Reticulocytosis, Pancytopenia, Diabetes mellitus, Small for gestational age, Ataxia, Splenomegaly... ORPHA:699
Porphyria, Congenital Erythropoietic
Osteopenia, Short stature, Jaundice, Osteolysis, Pathologic fracture, Vertebral compression fract... OMIM:263700
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Pes planus, Elevated circulating aspartate aminotransferase concen... OMIM:619525
Distal Renal Tubular Acidosis
Short stature, Osteomalacia, Rickets, Bone pain, Increased susceptibility to fractures, Reduced b... ORPHA:18
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Jaundice ORPHA:69665
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Tibial Hemimelia
Absent tibia OMIM:275220
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Craniopharyngioma
Hypogonadotropic hypogonadism, Proportionate short stature, Postnatal growth retardation, Increas... ORPHA:54595
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cog... ORPHA:309246
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Abnormal long bone mor... ORPHA:411634
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Elevated hepatic transaminase, Small scrotum, External genital hypoplasia, Cryptorchi... OMIM:614231
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Failure to thrive, Dystonia, Anisocytosis, Pectus excavatum, L... OMIM:618278
Lujo Hemorrhagic Fever
Resting tremor, Confusion, Elevated circulating C-reactive protein concentration, Leukocytosis, L... ORPHA:319213
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Cushing Disease
Diabetes mellitus, Impaired glucose tolerance, Intra-oral hyperpigmentation, Leukocytosis, Osteop... ORPHA:96253
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Failure to thrive, Hyperkalemia, Hypoglycemia ORPHA:90790
Wild Type Attr Amyloidosis
Elevated circulating alkaline phosphatase concentration ORPHA:330001
Cholera
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalc... ORPHA:173
Brittle Cornea Syndrome 2
Gait disturbance, Recurrent fractures, Joint hypermobility OMIM:614170
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, S... OMIM:278250
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... ORPHA:35078
Macrocephaly/Autism Syndrome
Short attention span, Large for gestational age, Splenomegaly, Obesity, High palate, Long philtru... OMIM:605309
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Osteoporosis, Increased susceptibility to fractures ORPHA:189427
Legionnaires Disease
Hyponatremia, Ataxia, Anorexia, Splenomegaly, Lymphopenia ORPHA:549
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Ataxia, Short stature, Low alkaline phosphatase, Hypogonadism, Decreased testicular size OMIM:201100
Caroli Disease
Portal hypertension, Intrahepatic cholestasis, Jaundice, Elevated circulating alanine aminotransf... ORPHA:53035
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia, Pedal edema ORPHA:567546
Iniencephaly
Rhizomelia, Rocker bottom foot, Hyperlordosis, Absent vertebra, Talipes equinovarus, Mandibular a... ORPHA:63259
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count OMIM:612260
Alagille Syndrome 1
Elevated hepatic transaminase, Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Pr... OMIM:118450
Peters-Plus Syndrome
Short lingual frenulum, Single transverse palmar crease, Proximal placement of thumb, Micrognathi... OMIM:261540
Restrictive Dermopathy
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... ORPHA:1662
Dermatitis Herpetiformis
Bone pain, Recurrent fractures ORPHA:1656
Icf Syndrome
Abnormality of neutrophils, Protruding tongue, Micrognathia, Macroglossia, Lymphopenia, Anemia ORPHA:2268
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Micrognathia, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of pr... ORPHA:444077
Gitelman Syndrome
Salt craving, Ataxia, Hypokalemia, Increased circulating renin level, Paresthesia, Hypomagnesemia... OMIM:263800
Limb Body Wall Complex
Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the upper limbs, A... ORPHA:2369
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia, Hypercapnia ORPHA:423
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Thrombocytopenia, Abnormal... ORPHA:79124
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Mirizzi Syndrome
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration ORPHA:521219
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Failure to thrive, Rickets OMIM:602722
Estrogen Resistance
Osteopenia, Elevated alkaline phosphatase of bone origin, Delayed skeletal maturation, Polycystic... OMIM:615363
Mercury Poisoning
Confusion, Anorexia, Tremor, Hypokalemia, Dystonia ORPHA:330021
Tropical Endomyocardial Fibrosis
Eosinophilia, Cachexia, Splenomegaly, Pedal edema, Hypoalbuminemia ORPHA:75565
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Relative macrocephaly, Lumbar hyperlordosis, Arachnodactyly, Sagittal craniosynostosis, Absent th... ORPHA:500150
Gitelman Syndrome
Salt craving, Maternal diabetes, Insulin resistance, Hypermagnesemia, Gout, Iron deficiency anemi... ORPHA:358
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Abnormality of the hand, Elevated circulating C-reactive pr... ORPHA:3243
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Paresthesia, Hyp... OMIM:601198
Multiple Myeloma
Osteopenia, Bone pain, Pathologic fracture, Vertebral compression fracture, Tall stature ORPHA:29073
Aspartylglucosaminuria
Joint laxity, Short stature, Microcephaly, Kyphosis, Delayed skeletal maturation, Hypoplastic fro... OMIM:208400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Aplasia of the thymus, Eosinophilia, Splenomegaly, Oral ulcer, B lymphocytopen... OMIM:602450
Ebola Hemorrhagic Fever
Leukopenia, Dysphagia, Lethargy, Lymphopenia, Thrombocytopenia ORPHA:319218
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Leukocytosis, Genu valgum, Downturned corners of mouth, Abdominal obesity, Azo... OMIM:619321
Pneumocystosis
Hypoxemia, Weight loss, Abnormal neutrophil count ORPHA:723
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Ataxia, Hypokalemia, Dysdiadochokinesis, Increased circulating renin level, Hypomag... OMIM:612780
Exudative Vitreoretinopathy 1
Recurrent fractures OMIM:133780
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Interface hepatitis, Elevated circulating alkaline phosphatase con... ORPHA:562639
Pseudo-Torch Syndrome 2
Lethargy, Thrombocytopenia, Thin ribs OMIM:617397
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia OMIM:618314
Glycerol Kinase Deficiency
Short stature, Cryptorchidism, Osteoporosis, Growth delay, Pathologic fracture OMIM:307030
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Hypospadias, Abnormality of alkaline phosphatase level, Gout, Hypo... OMIM:137920
Infantile Nephropathic Cystinosis
Rickets, Abnormal blood ion concentration, Glycosuria, Hypokalemia, Cognitive impairment, Hypopho... ORPHA:411629
Adrenocortical Carcinoma
Diabetes mellitus, Increased body weight, Weight loss, Irritability, Hypokalemia ORPHA:1501
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Caroli Syndrome
Elevated hepatic transaminase, Portal hypertension, Intrahepatic cholestasis, Jaundice, Elevated ... ORPHA:480520
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Thrombocytopenia,... ORPHA:906
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Hypokalemia, Polydipsia ORPHA:369929
Liddle Syndrome
Hypokalemia ORPHA:526
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Viss Syndrome
Micrognathia, Generalized joint laxity, Pectus carinatum, Joint laxity, Long toe, Microretrognath... OMIM:619472
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Anemia OMIM:611489
Familial Mediterranean Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... OMIM:249100
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Short stature, Ataxia, Delayed skeletal maturation, Osteoporosis, Decreased liver fun... ORPHA:77293
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Lysinuric Protein Intolerance
Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Short stature OMIM:222700
Apparent Mineralocorticoid Excess
Hypokalemia, Failure to thrive, Small for gestational age, Decreased circulating renin level OMIM:218030
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Thin ribs OMIM:615368
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Hypokalemia, Weight loss OMIM:613239
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Coat hanger sign of ribs, Overgrowth, Thoracic hypoplasia ORPHA:254534
Branchiooculofacial Syndrome
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short neck, Short thu... OMIM:113620
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... OMIM:241150
Leprechaunism
Long foot, Insulin resistance, Hyperinsulinemia, Large hands, Hypokalemia, Increased circulating ... ORPHA:508
Primary Fanconi Renotubular Syndrome
Osteomalacia, Bone pain, Increased susceptibility to fractures, Growth delay, Hypophosphatemic ri... ORPHA:3337
Primary Hyperoxaluria
Elevated hepatic transaminase, Generalized osteosclerosis, Bone pain, Recurrent fractures ORPHA:416
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Pagod Syndrome
Abnormal clavicle morphology, Short stature, Microcephaly, Abnormal rib morphology, Agonadism, Ab... ORPHA:991
Primary Sjögren Syndrome
Normocytic anemia, Somatic sensory dysfunction, Parotitis, Polyarticular arthropathy, Chorea, Dep... ORPHA:289390
Whim Syndrome
Sinusitis, Severe periodontitis, Abnormal neutrophil morphology, Limb ataxia, Neutropenia, Lympho... ORPHA:51636
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Calcification of the auricular cartilage, Elevated alkaline phosphatase ... ORPHA:51608
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Intermittent jaun... ORPHA:100085
Lysinuric Protein Intolerance
Osteopenia, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentrat... ORPHA:470
Apparent Mineralocorticoid Excess
Hypokalemia, Failure to thrive, Polydipsia, Decreased circulating renin level ORPHA:320
Cushing Syndrome Due To Ectopic Acth Secretion
Diabetes mellitus, Impaired glucose tolerance, Anorexia, Intra-oral hyperpigmentation, Leukocytos... ORPHA:99889
Senior-Boichis Syndrome
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Portal hy... ORPHA:84081
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hypoch... OMIM:241200
Multiple Endocrine Neoplasia Type 1
Increased susceptibility to fractures, Proportionate tall stature, Osteolysis, Reduced bone miner... ORPHA:652
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen... ORPHA:391487
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Bone pain OMIM:259900
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia, Narrow chest, Narrow mouth OMIM:614748
Gallbladder Neuroendocrine Tumor
Elevated alkaline phosphatase of hepatic origin, Elevated gamma-glutamyltransferase level, Interm... ORPHA:100086
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cheilitis, Neutropenia ORPHA:293173
Familial Hyperaldosteronism Type I
Hypokalemia, Polydipsia ORPHA:403
Isotretinoin-Like Syndrome
Lymphopenia, Hypocalcemia, Cleft palate, Micrognathia ORPHA:2306
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Parotitis, Elevated circulating creatine kinase concentration, Anorex... ORPHA:99827
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hyperc... OMIM:601678
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Hypokalemia, Decreased circulating renin level OMIM:615474
Vipoma
Diabetes mellitus, Hypercalcemia, Anorexia, Weight loss, Normochromic anemia, Hypokalemia ORPHA:97282
Ulnar Agenesis And Endocardial Fibroelastosis
Hand oligodactyly, Aplasia of the ulna OMIM:276822
Familial Hyperaldosteronism Type Iii
Hypokalemia, Polydipsia ORPHA:251274
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive OMIM:214700
Scorpion Envenomation
Restlessness, Increased circulating NT-proBNP concentration, Ataxia, Tremor, Glycosuria, Hypokale... ORPHA:466677
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Reynolds Syndrome
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Jaundice OMIM:613471
Bartter Syndrome Type 4
Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Increased circulating renin ... ORPHA:89938
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Polydipsia, Decreased circulating renin level OMIM:613677
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Leukocytosis, Oral ulcer, Hepatosplenomegaly, Arthritis OMIM:260920
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Elevated ... OMIM:124000
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Polydipsia, Decreased circulating renin level ORPHA:231580
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Congenital hip dislocation, High, narrow palate, Osteoarthritis, Abnormality o... ORPHA:286
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Blue Rubber Bleb Nevus
Pathologic fracture OMIM:112200
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Proximal Renal Tubular Acidosis
Enamel hypomineralization, Bicarbonaturia, Reduced bone mineral density, Hypokalemia, Glycosuria,... ORPHA:47159
Hypomagnesemia 2, Renal
Hypokalemia, Chondrocalcinosis, Hypomagnesemia OMIM:154020
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Cyanosis, Ataxia, Hypokalemia, Failure to thrive OMIM:618426
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Paresthesia, Decreased circulating renin level ORPHA:231625
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Micropenis, Decreased testicular size OMIM:615287
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive OMIM:613090
Yellow Fever
Low back pain, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, El... ORPHA:99829
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Failure to thrive, Decreased circulating renin level ORPHA:90793
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Polydipsia, Failure to thrive OMIM:602522
Helix Syndrome
Hypokalemia, Polydipsia, Hypermagnesemia OMIM:617671
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90795
Tsh-Secreting Pituitary Adenoma
Osteopenia, Tremor, Osteoporosis, Weight loss, Hypokalemia ORPHA:91347
Nelson Syndrome
Abnormality of the sphenoid sinus, Hypokalemia, Type II diabetes mellitus, Quadriceps muscle atrophy ORPHA:199244
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Increased circulating renin level OMIM:607364
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia, Hypoglycemia ORPHA:786
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level OMIM:202010

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tent5a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tent5a.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Cytoplasmic polyadenylation by TENT5A is required for proper bone formation. Cell reports (April 2021) Tent5aem1(IMPC)Ccpcz 33882302

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MGI Allele Allele Type Produced
Tent5aem1(IMPC)Ccpcz Indel Mice

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