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Gene: Ppp5c MGI:102666

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Gene Summary

Name:
protein phosphatase 5, catalytic subunit
Synonyms:
ANP receptor,  PP5

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
decreased body length Ppp5ctm1a(EUCOMM)Wtsi HOM   Early adult 9.28×10-10
increased lumbar vertebrae number Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 2.27×10-06
decreased circulating triglyceride level Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 1.15×10-11
decreased circulating glucose level Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 8.76×10-08
increased lean body mass Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 3.84×10-06
abnormal rib morphology Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 3.31×10-08
abnormal coat/hair pigmentation Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 1.28×10-06
vertebral fusion Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 3.72×10-05
increased rib number Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 1.09×10-07
increased total body fat amount Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 3.64×10-07
increased thoracic vertebrae number Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 3.85×10-06

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 50% (1 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 50% (1 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 50% (1 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 587)
aorta 0.17% (1 of 592)
blood vessel 0.0%
bone 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 586)
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
peripheral nervous system 0.34% (2 of 588)
peyer's patch 0.57% (1 of 175)
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
uterus 0.34% (2 of 589)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

10 Images

View images
Legacy Phenotype Associated Images
Ppp5ctm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Ppp5ctm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI
Ppp5ctm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Ppp5ctm1a(EUCOMM)Wtsi
forearm, HOM, Female, WTSI
Ppp5ctm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI

View all 155 images

Ppp5ctm1a(EUCOMM)Wtsi
eye, abnormal pupil morphology, mydriasis, HOM, Male, WTSI
Ppp5ctm1a(EUCOMM)Wtsi
eye, persistence of hyaloid vascular system, HOM, Female, WTSI
Ppp5ctm1a(EUCOMM)Wtsi
eye, abnormal placement of pupils, cataracts, abnormal pupil morphology, cornea/lens fusion, corneal opacity, HOM, Female, WTSI
Ppp5ctm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Ppp5ctm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Ppp5ctm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Ppp5c 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ppp5c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... ORPHA:2345
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... OMIM:613686
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Posterior rib fusion, Pectus carinatum... OMIM:122600
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal reticulocyte morphology, Short... ORPHA:2522
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib morphology, Abnormality of the e... ORPHA:3268
Chondrocalcinosis Due To Apatite Crystal Deposition
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... OMIM:118610
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Osteomyelitis, Neutrophilia, Splenomegaly, Osteopenia, Abscess, Fused cervical ve... OMIM:612852
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Cervical Rib
Cervical ribs OMIM:117900
Diaphanospondylodysostosis
Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossi... ORPHA:66637
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Prominent metopic ridge, Scoliosis OMIM:309620
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... OMIM:618469
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... OMIM:118100
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Vertebral fusion, Short thorax, Sacral dimple OMIM:618845
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... ORPHA:2064
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... OMIM:178110
Kniest Dysplasia
Enlarged joints, Joint stiffness, Laryngotracheomalacia, Flexion contracture of finger, Anterior ... ORPHA:485
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Rib fusion, Contracture of the proximal interphalangeal ... OMIM:609813
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... ORPHA:2790
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, A... ORPHA:1354
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebra... ORPHA:1801
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis ORPHA:530983
Multiple Synostoses Syndrome 2
Carpal synostosis, Finger symphalangism, Proximal symphalangism, Tarsal synostosis, Humeroradial ... OMIM:610017
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Supernumerary nipple, Inguinal hernia, Six lumbar vertebrae, Widow's peak, Join... OMIM:619122
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Carpal synostosis, Dislocated radial head, Ankle flexion contrac... OMIM:305620
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Short neck, Thoracolumbar scoliosis, Acetab... OMIM:616549
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in tendon tissue, Scoliosis, Hamartoma, Ectopic ossification in muscle tissu... OMIM:135100
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Inguinal hernia, Short... OMIM:271520
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... OMIM:184400
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Scoliosis, Posterior rib fusion, Spina bifida occulta,... ORPHA:1797
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Lumbar hyperlordosis, Scoliosis, Thoracic kyphoscoliosis, Pectus carinatum, ... ORPHA:313892
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Scoliosis, Genu varum, Fused cervical vertebrae, Cervical ribs... ORPHA:3320
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Kbg Syndrome
Delayed skeletal maturation, Short neck, Scoliosis, Thoracic kyphosis, Cervical ribs, Persistent ... ORPHA:2332
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervical curvature... OMIM:312150
Metatropic Dysplasia
Narrow chest, Kyphosis, Joint stiffness, Camptodactyly of finger, Scoliosis, Abnormal form of the... ORPHA:2635
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the humeroulnar joint, Eunuchoid habitus, Hemivertebrae, Short neck, Abnormal form... ORPHA:2234
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Small for gestational age, Pectus carinatu... OMIM:617796
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Down-sloping shoulders, Pterygium, Rib fusion, Anterior ... OMIM:265000
Ring Chromosome 21 Syndrome
Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis, Fused thoracic vertebrae ORPHA:1445
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervical curvature... OMIM:253290
Waardenburg Syndrome, Type 1
Sprengel anomaly, Thick eyebrow, Blue irides, Supernumerary vertebrae, Partial albinism, White ey... OMIM:193500
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... OMIM:618000
Osteogenesis Imperfecta, Type Ix
Kyphosis, Recurrent fractures, Pectus excavatum, Decreased calvarial ossification, Platyspondyly,... OMIM:259440
Fanconi Anemia, Complementation Group I
Decreased body weight, Short neck, Fused cervical vertebrae, Neutropenia, Bone marrow hypocellula... OMIM:609053
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Overweight ORPHA:370010
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Camptodactyly of finger, Abnormality of the ankles, Synostosis of ... ORPHA:1836
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... OMIM:113000
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Splenomegaly, Platyspondyly, Scoliosis, Anterior rib cupping, Thoracic hypoplasia OMIM:602271
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Limitation of joint mobility ORPHA:168555
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Slender build, Irregular chondrocostal junctions, Short ribs, Scol... OMIM:187760
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Pectus excavatum, Butterfly vertebrae, Spina bifida occulta, Fused cervical ver... OMIM:619227
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Enlargement of the costochondral junction, Irregular patellae, O... OMIM:609052
Verheij Syndrome
Hemivertebrae, Short neck, Scoliosis, Hip dislocation, Vertebral fusion OMIM:615583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:606612
Basal Cell Nevus Syndrome
Hemivertebrae, Down-sloping shoulders, Basal cell carcinoma, Ovarian carcinoma, Vertebral wedging... OMIM:109400
Keratoconus Posticus Circumscriptus
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination OMIM:244600
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Platyspondyly, Short neck, Biconcave vertebral bodies, Pectus carinatum, Genu valgum, Interverteb... ORPHA:93315
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Cachexia, Abnormality of the spleen, Abnormal form of the vertebral bodies ORPHA:93941
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Narrow chest, Kyphoscoliosis, Hypoplastic vertebral bodies, Pectus excavat... OMIM:263540
Mantle Cell Lymphoma
Weight loss, Lymphadenopathy, Splenomegaly ORPHA:52416
Atelosteogenesis, Type I
Narrow chest, Knee dislocation, Long clavicles, Short neck, 11 pairs of ribs, Bell-shaped thorax,... OMIM:108720
Metatropic Dysplasia
Enlarged joints, Platyspondyly, Anisospondyly, Genu valgum, Abnormal enchondral ossification, Del... OMIM:156530
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Dislocated radial head, Knee dislocation, Thin ribs, Short neck, P... OMIM:618395
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Short neck, Abnormal rib morphology ORPHA:2578
Gorlin Syndrome
Neoplasm, Hemivertebrae, Vertebral fusion, Scoliosis, Vertebral wedging ORPHA:377
Mosaic Trisomy 20
Spinal canal stenosis, Kyphosis, Vertebral segmentation defect, Narrow chest, Limited pronation/s... ORPHA:1724
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Hypopigmentation of the skin, Hypopigmentation of hair, Platyspondyly, Osteoporosis, Al... ORPHA:2786
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Joint stiffness, Genu recurvatum, Enlarged interphalangeal joint... OMIM:151200
Becker Nevus Syndrome
Rib fusion, Kyphosis, Pectus excavatum, Hypermelanotic macule, Supernumerary nipple, Lipoatrophy,... ORPHA:64755
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs du... OMIM:615220
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Aarskog-Scott Syndrome
Pectus excavatum, Genu recurvatum, Abnormal vertebral segmentation and fusion, Camptodactyly of f... ORPHA:915
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Platyspondyly, Synostosis of carpal bones, Osteoporosis, Pectus carinatum, Abnorm... ORPHA:93351
Lateral Meningocele Syndrome
Kyphosis, Sclerosis of skull base, Pectus excavatum, Abnormal rib cage morphology, Short neck, Bi... OMIM:130720
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Short clavicles, Wormian bones, Flat acetabular roof OMIM:617159
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... ORPHA:2916
Poland Syndrome
Sprengel anomaly, Hemivertebrae, Rib fusion, Short ribs OMIM:173800
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Mosaic Trisomy 14
Narrow chest, Failure to thrive, Camptodactyly of finger, Short neck, Abnormal rib morphology ORPHA:1703
Spondyloepimetaphyseal Dysplasia, Irapa Type
Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platyspondyly, Pectus carinatum, Enlarg... OMIM:271650
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Horizontal ribs, Lateral clavicle... OMIM:617405
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Butterfly vertebrae, Osteopenia, Short neck, Scoliosis, Camptodact... OMIM:611209
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Hemivertebrae, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib m... ORPHA:2180
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Synostosis of carpal ... ORPHA:90650
Diastrophic Dysplasia
Kyphosis, Joint stiffness, Abnormal clavicle morphology, Joint dislocation, Increased bone minera... ORPHA:628
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Platyspondyly, Short neck, Abnormal rib morphology, D... ORPHA:93267
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:607155
Becker Nevus Syndrome
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis OMIM:604919
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology, ... ORPHA:1486
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Hypopigmentation of the skin, Childhood-onset truncal obesit... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Hypopigmentation of the skin, Childhood-onset truncal obesit... ORPHA:71526
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scolio... ORPHA:3027
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Anterior vertebral fusion, Long clavicles, Shoulder dislocation, Genu varum, Radioulnar synostosi... OMIM:171480
Frontometaphyseal Dysplasia
Sprengel anomaly, Dislocated radial head, Sclerosis of skull base, Joint contracture of the hand,... ORPHA:1826
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Growth Hormone Insensitivity Syndrome
Delayed skeletal maturation, Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypog... ORPHA:181393
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Thin ribs, Small for gestational age, Platyspondyly, Wormian bones, Bell-sha... OMIM:166210
Axial Spondylometaphyseal Dysplasia
Narrow chest, Thoracic scoliosis, Delayed ossification of carpal bones, Short ribs, Osteopenia, P... ORPHA:168549
Spondylocarpotarsal Synostosis Syndrome
Vertebral segmentation defect, Delayed skeletal maturation, Carpal synostosis, C2-C3 subluxation,... OMIM:272460
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Leukocytosis, Eosinophilia, Hepatosplenomegaly, Genu varum, Carpal bone hypopl... OMIM:274000
Glycogen Storage Disease Vi
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... OMIM:232700
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Thin ribs, Short ribs, Disc-like vertebral bodies, Decreased cranial base ossificat... OMIM:151210
White Forelock With Malformations
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology, White forelock, Delayed skeletal... ORPHA:2475
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Lumbar hyperlordosis, Delayed ossific... OMIM:609616
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hypertrichosis, Pectus excavatum, Craniosynostosis, Hemivertebrae, Short neck, Large for gestatio... OMIM:213980
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Failure to thrive, Thin ribs, Long clavicles, Coronal craniosynostosis, Contracture of the distal... ORPHA:83617
Mucopolysaccharidosis Type 6
Kyphosis, Joint stiffness, Failure to thrive, Splenomegaly, Short neck, Genu valgum, Broad ribs, ... ORPHA:583
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Rib fusion, Camptodactyly of finger, Short neck, Scolios... ORPHA:2311
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutrope... OMIM:615285
Juberg-Hayward Syndrome
Scoliosis, Abnormality of the elbow, Radioulnar synostosis, Abnormal rib morphology, Abnormality ... ORPHA:2319
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Hemivertebrae, Abnormal form of the vertebral bodies, Abnormal rib morphology, Missing ribs, Join... ORPHA:2759
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Stiff neck, Anteriorly plac... ORPHA:268882
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Failure to thrive, Hypoplastic acetabulae, Atlantoaxial instability,... ORPHA:239
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Pectus excavatum, Generalized joint laxity, Shoulder subluxation, Short neck,... ORPHA:508498
Grant Syndrome
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Joint hyperf... ORPHA:2097
3Q29 Microdeletion Syndrome
Failure to thrive, Pectus excavatum, Pectus carinatum, Six lumbar vertebrae, Abnormality of skin ... ORPHA:65286
Hypophosphatasia
Narrow chest, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Anemia, Failure to ... ORPHA:436
Alkaptonuria
Kyphosis, Intervertebral disc degeneration, Limitation of knee mobility, Arthritis, Low back pain... OMIM:203500
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Recurrent fractures, Multiple rib fractures, Small for gestational age, Osteopenia,... OMIM:616229
Femoral-Facial Syndrome
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Scoliosis, Radioulnar synostosis, Ab... ORPHA:1988
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Lipoma, Hepatoblastoma, Teratoma, Hemivertebrae, Hem... OMIM:304050
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Hirsutism, Inguinal hernia, Coarse hair, Scoliosis, Ovoid thorac... OMIM:252900
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Failure to thrive secondary to recurrent infection... OMIM:608971
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Pectus excavatum, Scoliosis, Hip dislocation, Vertebral ... ORPHA:96169
Postaxial Acrofacial Dysostosis
Pectus excavatum, Supernumerary nipple, Supernumerary vertebrae, Congenital hip dislocation, Radi... OMIM:263750
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Platyspondyly, ... ORPHA:582
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum, Joint hypermo... OMIM:602196
Microphthalmia, Syndromic 3
Rib fusion, Butterfly vertebrae, Hypothalamic hamartoma, Hemivertebrae, Vertebral hypoplasia, Mis... OMIM:206900
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Scoliosis, Anterior rib cupping, Pectus carinatum, Hyperlordosis, C1-C2 subluxatio... OMIM:184250
Achondrogenesis Type 1B
Narrow chest, Short neck, Abnormal rib morphology, Short thorax, Abnormal enchondral ossification ORPHA:93298
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Short ribs, ... OMIM:187601
Chops Syndrome
Cervical C2/C3 vertebral fusion, Obesity, Tracheomalacia, Splenomegaly OMIM:616368
Shwachman-Diamond Syndrome 1
Narrow chest, Delayed skeletal maturation, Failure to thrive, Small for gestational age, Persiste... OMIM:260400
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Cardiospondylocarpofacial Syndrome
Rib fusion, Carpal synostosis, Failure to thrive, Scoliosis, Fused cervical vertebrae, Joint laxi... OMIM:157800
Gm1-Gangliosidosis, Type I
Thickened ribs, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Joint stiffn... OMIM:230500
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Duane-Radial Ray Syndrome
Fused cervical vertebrae, Shoulder dislocation, Scoliosis, Spina bifida occulta OMIM:607323
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Delayed skeletal maturation, Neutropenia ORPHA:2643
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... OMIM:615234
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Dense calvaria OMIM:252920
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Delayed skeletal maturation, Kyphoscoliosis, Delayed ossification of carpal bone... OMIM:184252
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Mucopolysaccharidosis, Type Iva
Kyphosis, Large elbow, Prominent sternum, Anterior beaking of lumbar vertebrae, Platyspondyly, Sh... OMIM:253000
Otopalatodigital Syndrome Type 2
Narrow chest, Carpal synostosis, Failure to thrive, Increased bone mineral density, Abnormal vert... ORPHA:90652
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology OMIM:300864
Apert Syndrome
Delayed epiphyseal ossification, Humeroradial synostosis, Craniosynostosis, Coronal craniosynosto... OMIM:101200
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Beaking of vertebral bodies, Hirsutism, Hypertrichosis, Kyphoscoliosis, Joint sti... OMIM:252930
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:607624
Cartilage-Hair Hypoplasia
Narrow chest, Lumbar hyperlordosis, Lymphopenia, Prominent sternum, Narrow vertebral interpedicul... OMIM:250250
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Aplasia/Hypoplasia of the eyebrow, Hernia of the abdominal wall, Short neck, Pectus car... ORPHA:3082
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Kyphoscoliosis, Short ribs, Elbow flexion contracture, Arthrogryposis multiplex ... ORPHA:1145
Immunodeficiency 48
Failure to thrive, Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia, Obesity, Lateral clavicle ... OMIM:615633
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Holt-Oram Syndrome
Sprengel anomaly, Kyphosis, Joint stiffness, Abnormal clavicle morphology, Pectus excavatum, Down... ORPHA:392
Kbg Syndrome
Delayed skeletal maturation, Rib fusion, Short neck, Vertebral arch anomaly, Thoracic kyphosis, C... OMIM:148050
Osteogenesis Imperfecta, Type Iii
Kyphosis, Recurrent fractures, Thin ribs, Decreased calvarial ossification, Biconcave vertebral b... OMIM:259420
Waardenburg Syndrome Type 1
Sprengel anomaly, Thick eyebrow, Hypopigmentation of hair, Scoliosis, White eyebrow, White eyelas... ORPHA:894
Frontometaphyseal Dysplasia 2
Dislocated radial head, Hip contracture, Pectus excavatum, Congenital hip dislocation, Scoliosis,... OMIM:617137
Renpenning Syndrome
Sprengel anomaly, Joint stiffness, Pectus excavatum, Abnormal hairshaft morphology, Alopecia, Cac... ORPHA:3242
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion, Ovarian neoplasm ORPHA:87
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Irregular ... OMIM:619698
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Hepatoblastoma, Scoliosis, Multiple lipomas, Intesti... ORPHA:50
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopathy ORPHA:66661
Prune Belly Syndrome
Vertebral segmentation defect, Failure to thrive, Pectus excavatum, Congenital hip dislocation, S... ORPHA:2970
Koolen-De Vries Syndrome
Kyphosis, Failure to thrive, Pectus excavatum, Spondylolisthesis, Small for gestational age, Prom... OMIM:610443
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Short neck, Abnormality of the spleen, Abnormal form of the verteb... ORPHA:1834
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Pectus excavatum, Lumbar hyperlordosis, Platyspondyly, Limited elbow extension, Ovoid vertebral b... OMIM:608728
Galactose Epimerase Deficiency
Weight loss, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Immunodeficiency 69
Failure to thrive, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, ... OMIM:618963
Fibrochondrogenesis
Narrow chest, Short ribs, Camptodactyly of finger, Short neck, Abnormal form of the vertebral bod... ORPHA:2021
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Splenomegaly ORPHA:3035
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Joint stiffness, Platyspondyly, Scoliosis, Severe platyspondyly, Ovoid vertebral bodies, Cupped ribs OMIM:608940
Pseudoachondroplasia
Limited hip extension, Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Irregular car... OMIM:177170
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis OMIM:122860
Achondrogenesis Type 1A
Narrow chest, Recurrent fractures, Multiple rib fractures, Short neck, Short thorax, Abnormal enc... ORPHA:93299
Cerebrofaciothoracic Dysplasia
Sprengel anomaly, Rib fusion, Bifid ribs, Narrow chest, Thick eyebrow, Vertebral segmentation def... ORPHA:1394
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Thin ribs, Biconcave vertebral bodies, Wormian bones, Joint laxity, Vertebra... OMIM:617952
Schneckenbecken Dysplasia
Narrow chest, Advanced ossification of carpal bones, Narrow vertebral interpedicular distance, Sh... OMIM:269250
Jeune Syndrome
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Abnormality of retinal p... ORPHA:474
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short neck, Scoliosis, Biconcave vertebral bodies, Broad ribs OMIM:610319
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Cooper-Jabs Syndrome
Reduced bone mineral density, Camptodactyly of finger, Scoliosis, Abnormal rib morphology, Missin... ORPHA:1488
Mucopolysaccharidosis, Type Ivb
Kyphosis, Prominent sternum, Platyspondyly, Scoliosis, Osteoporosis, Ulnar deviation of the wrist... OMIM:253010
Phaver Syndrome
Joint stiffness, Butterfly vertebrae, Camptodactyly of finger, Abnormal form of the vertebral bod... ORPHA:2876
Galactosemia Iii
Failure to thrive, Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Anterior rib cupping, Genu va... ORPHA:174
Melnick-Needles Syndrome
Narrow chest, Short clavicles, Delayed cranial suture closure, Scoliosis, Abnormal rib morphology... ORPHA:2484
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, 11 pairs of ribs, Decreased skull ossification, Thin ribs OMIM:300863
Cole-Carpenter Syndrome
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Wormian bones, A... ORPHA:2050
Faciodigitogenital Syndrome, Autosomal Recessive
Pectus excavatum, Abnormal rib cage morphology, Down-sloping shoulders, Camptodactyly, Vertebral ... OMIM:227330
3M Syndrome
Kyphosis, Increased vertebral height, Enlarged thorax, Thin ribs, Short neck, Scoliosis, Congenit... ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Missouri Type
Osteoarthritis, Platyspondyly, Irregular sclerotic endplates, Pear-shaped vertebrae, Genu varum, ... OMIM:602111
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Recurrent fractures, Decreased calvarial ossification, Joint hyperflexib... ORPHA:2772
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Az... OMIM:602390
Three M Syndrome 2
Lumbar hyperlordosis, Thin ribs, Small for gestational age, Short neck, Pectus carinatum, Hyperlo... OMIM:612921
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, Monocytosis, Autoimmune thrombocytopen... OMIM:614470
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Hemivertebrae, Pectus excavatum, Posterior rib fusion, Abnormal rib cage morphology OMIM:608406
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, Lymphadenopathy ORPHA:100024
Robinow Syndrome, Autosomal Recessive 1
Delayed skeletal maturation, Rib fusion, Dislocated radial head, Pectus excavatum, Hypoplastic sa... OMIM:268310
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Delayed skeletal maturation, Prominent sternum, Thin ribs, Flexion contracture, Platyspondyly, Sh... OMIM:300232
Simpson-Golabi-Behmel Syndrome
Vertebral segmentation defect, Neoplasm, Pectus excavatum, Neuroblastoma, Hepatoblastoma, Acceler... ORPHA:373
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Multiple rib fractures, Short ribs, Osteopenia, Small for gestational age, P... OMIM:616897
Dyggve-Melchior-Clausen Disease
Prominent sternum, Barrel-shaped chest, Platyspondyly, Short neck, Pectus carinatum, Genu valgum,... OMIM:223800
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... OMIM:617514
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Horizontal ribs, Short ribs OMIM:200610
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cho... ORPHA:79301
Cantú Syndrome
Narrow chest, Generalized hirsutism, Low anterior hairline, Thick eyebrow, Accelerated skeletal m... ORPHA:1517
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Lymphangiectasia, Intestinal
Lymphopenia, Prominent floating ribs OMIM:152800
Achondrogenesis, Type Ia
Narrow chest, Short clavicles, Short ribs, Hypoplastic sacrum, Barrel-shaped chest, Short neck, B... OMIM:200600
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Low back pain, Pancytopenia, Bone mar... ORPHA:86843
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Generalized hyperpigmentation, Hypopigmentation of hair, Premature ... ORPHA:33445
Brachytelephalangic Chondrodysplasia Punctata
Spinal canal stenosis, Calcaneal epiphyseal stippling, Butterfly vertebrae, Abnormal ossification... ORPHA:79345
Acrodysostosis 2 With Or Without Hormone Resistance
Spinal canal stenosis, Fair hair, Blue irides, Accelerated skeletal maturation, Diabetes mellitus... OMIM:614613
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Cole-Carpenter Syndrome 2
Kyphosis, Pectus excavatum, Thin ribs, Coronal craniosynostosis, Osteopenia, Platyspondyly, Wormi... OMIM:616294
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Cenani-Lenz Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Synostosis of carpal bones, Radioulnar synostos... ORPHA:3258
Osteogenesis Imperfecta, Type X
Narrow chest, Thin ribs, Generalized joint laxity, Osteopenia, Platyspondyly, Scoliosis, Genu val... OMIM:613848
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Decreased body weight, Arthrogryposis multiplex congenita, Thin ribs, Craniosynostosis OMIM:618265
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Sprengel anomaly, Thoracolumbar scoliosis, Cervical ribs, Autoimmune thrombocytopenia OMIM:601389
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Secondary amenorrhea, Hepatic fibrosis, Hypogonadism, Anemia OMIM:613313
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Asymmetry of the thorax, Thin ribs, Wormian bones, Limited elbow exten... OMIM:604922
Acrocapitofemoral Dysplasia
Narrow chest, Pectus excavatum, Lumbar hyperlordosis, Delayed ossification of carpal bones, Short... OMIM:607778
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Poland Syndrome
Vertebral segmentation defect, Kyphosis, Sprengel anomaly, Abnormal sternum morphology, Asymmetry... ORPHA:2911
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Hyperlordosis, Abnormal rib morphology, Delayed skeletal maturation, Limitation... ORPHA:3068
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, B-cell lymphoma, Lymphopenia, Splenomegaly, Aplasia of the thymus, Horizontal ... OMIM:102700
Pontine Tegmental Cap Dysplasia
Failure to thrive, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis OMIM:614688
Dysosteosclerosis
Irregular vertebral endplates, Narrow chest, Sclerosis of skull base, Hypoplastic vertebral bodie... OMIM:224300
Hodgkin Lymphoma
Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Fibrochondrogenesis 1
Widely patent coronal suture, Widely patent sagittal suture, Joint contracture of the hand, Thin ... OMIM:228520
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Weight loss, Lymphadeno... ORPHA:545
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Monosomy 9Q22.3
Kyphosis, Pectus excavatum, Medulloblastoma, Accelerated skeletal maturation, Odontogenic keratoc... ORPHA:77301
Myhre Syndrome
Joint stiffness, Small for gestational age, Platyspondyly, Enlarged vertebral pedicles, Short nec... OMIM:139210
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Nail dysplasia, Absent eyebrow, Inguinal hernia, Alopecia, Unilateral chest hypoplasia, Abnormali... OMIM:308205
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Ascites, Premature ovarian insufficiency, Lymphadenopathy ORPHA:100025
Hyperparathyroidism, Transient Neonatal
Narrow chest, Osteopenia, Thin ribs, Short ribs OMIM:618188
Wolf-Hirschhorn Syndrome
Delayed skeletal maturation, Kyphosis, Rib fusion, Abnormal sternal ossification, Failure to thri... OMIM:194190
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Widely patent fontanelles and sutures, Fail... OMIM:600081
Waardenburg Syndrome, Type 3
Carpal synostosis, Premature graying of hair, Blue irides, Joint contracture of the hand, Camptod... OMIM:148820
Alagille Syndrome
Vertebral segmentation defect, Failure to thrive, Abnormal form of the vertebral bodies, Spina bi... ORPHA:52
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Kyphosis, Joint dislocation, Platyspondyly, Joint hyperflexibility, Hyposegmentation of neutrophi... OMIM:618019
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1120
Cartilage-Hair Hypoplasia
Narrow chest, Failure to thrive, Abnormal bone ossification, Accelerated skeletal maturation, Abn... ORPHA:175
Holzgreve Syndrome
Abnormal rib morphology, Joint stiffness, Abnormally ossified vertebrae ORPHA:2167
Lethal Congenital Contracture Syndrome 10
Narrow chest, Thoracic scoliosis, Hypoplasia of the thymus, Short neck, Broad ribs, Stiff neck OMIM:617022
Osteogenesis Imperfecta, Type Viii
Kyphosis, Recurrent fractures, Thin ribs, Osteopenia, Barrel-shaped chest, Platyspondyly, Scolios... OMIM:610915
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Delayed skeletal maturation, Failure to thrive, Bell-shaped thorax, Horizontal ribs, Neutropenia,... OMIM:614857
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... OMIM:203200
Campomelia, Cumming Type
Abnormal rib morphology, Myelodysplasia, Abnormal thorax morphology, Abnormally ossified vertebrae ORPHA:1318
Acro-Renal-Mandibular Syndrome
Sprengel anomaly, Kyphosis, Butterfly vertebrae, Abnormal clavicle morphology, Thin ribs, Hemiver... ORPHA:958
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Portal fibrosis, Jaundice, Acholic stools OMIM:619868
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Nestor-Guillermo Progeria Syndrome
Sparse eyebrow, Alopecia, Osteolysis, Delayed closure of the anterior fontanelle, Joint stiffness... OMIM:614008
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hypertrichosis, Hyperinsulinemia, Small for gestational age, Diabetic... OMIM:262190
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Irregular chondrocostal junctions, Lumbar hyperlordosis, Short ribs, Flat glenoid fossa, Scoliosi... OMIM:250420
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Radioulnar synostosis, Abnormal rib morphology, Patellar aplasia, Delayed... OMIM:617604
Mosaic Trisomy 8
Vertebral segmentation defect, Narrow chest, Camptodactyly of finger, Short neck, Scoliosis, Abno... ORPHA:96061
Greenberg Dysplasia
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, 11 p... OMIM:215140
Immunodeficiency 64
Failure to thrive, Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unre... OMIM:618534
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Lethal Kniest-Like Dysplasia
Narrow chest, Hypoplastic vertebral bodies, Short ribs, Platyspondyly, Short neck, Anterior rib c... ORPHA:2347
Waardenburg Syndrome, Type 2A
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... OMIM:193510
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia OMIM:615085
Aspergillosis
Osteomyelitis, Eosinophilia, Abnormality of the vertebral column, Abnormal rib morphology, Hemato... ORPHA:1163
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... ORPHA:895
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Craniosynostosis, Short ribs, Shallow acetabular fossae, Scoliosis, Carpa... OMIM:252600
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Osteopenia, Wormian bones, Vertebral arch anomaly, Broad ribs ORPHA:85184
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Thin ribs, Small for gestational age OMIM:615368
Thanatophoric Dysplasia, Type I
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Short ribs, ... OMIM:187600
Familial Osteodysplasia, Anderson Type
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Aplastic clavicl... ORPHA:2769
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Red hair, Hypoglycemic seizures OMIM:609734
Occipital Horn Syndrome
Narrow chest, Kyphosis, Short clavicles, Pectus excavatum, Platyspondyly, Broad clavicles, Pectus... OMIM:304150
Kenny-Caffey Syndrome, Type 1
Thin ribs, Long clavicles, Thin clavicles, Delayed closure of the anterior fontanelle, Calvarial ... OMIM:244460
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... ORPHA:514
Microcephaly-Micromelia Syndrome
Narrow chest, Craniosynostosis, Short neck, Abnormal rib morphology, Humeroradial synostosis OMIM:251230
Pfapa Syndrome
Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Cyanosis, Osteomalacia, Abnormal calcification of the carpal bones, Fai... ORPHA:51608
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Hemivertebrae, Pectus carinatum, Genu valgum, Delayed skeletal maturation, ... OMIM:224690
Craniofaciofrontodigital Syndrome
Pectus excavatum, Hypoplastic vertebral bodies, Short neck, Broad ribs, Cubitus valgus, Joint hyp... OMIM:114620
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Hurler Syndrome
Spinal canal stenosis, Abnormal clavicle morphology, Splenomegaly, Camptodactyly of finger, Short... ORPHA:93473
Robinow Syndrome
Rib fusion, Kyphoscoliosis, Fused thoracic vertebrae, Small for gestational age, Hemivertebrae, S... ORPHA:97360
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs ORPHA:163966
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... ORPHA:897
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Decreased body weight, Flexion contracture, Thin ribs OMIM:614833
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Craniosynostosis ORPHA:2145
Trisomy 13
Narrow chest, Kyphosis, Scoliosis, Abnormal rib morphology, Capillary hemangioma ORPHA:3378
Brittle Cornea Syndrome 1
Spondylolisthesis, Dentinogenesis imperfecta, Congenital hip dislocation, Scoliosis, Joint laxity... OMIM:229200
X-Linked Hypophosphatemia
Limitation of joint mobility, Craniosynostosis, Reduced bone mineral density, Rachitic rosary, Ge... ORPHA:89936
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... ORPHA:2885
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:256710
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Narrow chest, Abnormal bone ossification, Thin ribs, Hepatic hemangioma, Abnormal form of the ver... ORPHA:73230
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hirsutism, Pectus excavatum, Abnormal bone ossification, Eunuchoid habitus, Thin ribs, Osteopenia... ORPHA:2463
Kagami-Ogata Syndrome
Kyphoscoliosis, Thin ribs, Long clavicles, Splenomegaly, Flexion contracture, Bell-shaped thorax OMIM:608149
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia, Wormian bones, Hip subluxation, Abnormal vertebr... ORPHA:444077
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Craniometadiaphyseal Dysplasia
Sclerosis of skull base, Osteopenia, Scoliosis, Wormian bones, Genu varum, Genu valgum, Broad rib... OMIM:269300
Kniest-Like Dysplasia, Lethal
Narrow chest, Hypoplastic vertebral bodies, Short ribs, Platyspondyly, Short neck, Broad ribs, Co... OMIM:245190
Ataxia-Telangiectasia
Failure to thrive, Premature graying of hair, Type II diabetes mellitus, Hypopigmentation of hair... ORPHA:100
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Failure to thrive, Craniosynostosis, Scoliosis, Abnormal vertebral morphology, Obesity ORPHA:261197
Duane Retraction Syndrome
Irregular hyperpigmentation, Abnormal vertebral segmentation and fusion, Short neck, Abnormal for... ORPHA:233
Cog1-Cdg
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Butterfly vertebrae, Posterior rib gap... ORPHA:263508
Cleidocranial Dysplasia
Narrow chest, Recurrent fractures, Short clavicles, Down-sloping shoulders, Scoliosis, Osteoporos... ORPHA:1452
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Gracile Bone Dysplasia
Failure to thrive, Thin ribs, Hypoplastic spleen, Decreased skull ossification, Asplenia OMIM:602361
Antley-Bixler Syndrome
Narrow chest, Joint stiffness, Recurrent fractures, Elbow ankylosis, Craniosynostosis, Delayed cr... ORPHA:83
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... ORPHA:169154
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Hepatic steatosis OMIM:612526
Autosomal Recessive Multiple Pterygium Syndrome
Vertebral segmentation defect, Rib fusion, Failure to thrive, Pectus excavatum, Abnormal sternum ... ORPHA:2990
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Pectus excavatum OMIM:211380
Gaucher Disease, Type Iii
Decreased body weight, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decr... OMIM:618495
Wilson Disease
Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Cirrhosis, Abnormality of the men... ORPHA:905
Mucopolysaccharidosis, Type Vi
Avascular necrosis, Joint stiffness, Kyphoscoliosis, Lumbar hyperlordosis, Prominent sternum, Hyp... OMIM:253200
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Accelerated skeletal maturation, Abnormal scapula morphology, Platyspondyly, Abnorm... ORPHA:93317
Ermine Phenotype
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair OMIM:227010
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Obesity, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177910
Schwartz-Jampel Syndrome
Pectus excavatum, Abnormally ossified vertebrae, Short neck, Platyspondyly, Pectus carinatum, Gen... ORPHA:800
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Thin clavicles, Delayed cranial suture closure, Calvarial osteosclerosis, Delayed skel... ORPHA:93324
Vacterl/Vater Association
Vertebral segmentation defect, Abnormal rib morphology, Abnormal intervertebral disk morphology, ... ORPHA:887
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Joint stiffness, Thoracic scoliosis, Hypoplastic vertebral bodies, Splenomegaly, ... OMIM:252940
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Platyspondyly, Short neck, 11 pairs of ribs, Ge... OMIM:271640
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Alopecia, Congenital hip dislocation, Abnormal fingernail morpho... ORPHA:1647
Xylt1-Cdg
Hirsutism, Short clavicles, Joint dislocation, Accelerated skeletal maturation, Truncal obesity, ... ORPHA:370930
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Hypocholesterolemia, Elbow flexion contracture, Knee flexion co... OMIM:618156
Acromesomelic Dysplasia 4
Beaking of vertebral bodies, Hypertrichosis, Thoracic scoliosis, Thick eyebrow, Prominent sternum... OMIM:619636
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropi... OMIM:235200
Radio-Renal Syndrome
Abnormal rib morphology, Short neck, Abnormal form of the vertebral bodies, Abnormality of the elbow ORPHA:3015
Simpson-Golabi-Behmel Syndrome, Type 1
Vertebral segmentation defect, Hypertrichosis, Pectus excavatum, Short sternum, Supernumerary nip... OMIM:312870
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Thyroid carcinoma, Abnormal lumbar spine morphology, Scoliosis, Tes... ORPHA:249
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Coat hanger sign of ribs, Large for gestational age, Umbilical hernia,... ORPHA:254534
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Short ribs, Horizontal ribs, Omphalocele, Thoracic hypoplasia, Lateral clavicle hook OMIM:617895
Tetraamelia-Multiple Malformations Syndrome
Abnormal rib morphology, Missing ribs, Abnormally ossified vertebrae ORPHA:3301
Spondylometaphyseal Dysplasia, Algerian Type
Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Anterior rib cupping, Carpal bone hypoplasia... OMIM:184253
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Omenn Syndrome
Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B l... OMIM:603554
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Vertebral fusion ORPHA:959
Incontinentia Pigmenti
Nail dysplasia, Kyphoscoliosis, Scarring, Sparse hair, Supernumerary nipple, Alopecia, Hemiverteb... OMIM:308300
Osteogenesis Imperfecta
Pectus excavatum, Osteopenia, Biconcave vertebral bodies, Pectus carinatum, Genu valgum, Thoracic... ORPHA:666
Osteogenesis Imperfecta, Type Vii
Narrow chest, Recurrent fractures, Pectus excavatum, Multiple rib fractures, Osteopenia, Decrease... OMIM:610682
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Pectus excavatum, Prominent metopic ridge, Camptodactyly of finger, Scoliosis, Abnormal... ORPHA:2215
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Pectus excavatum, Genu recurvatum, Joint contracture of the hand, Thin ri... OMIM:182212
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Kagami-Ogata Syndrome
Kyphoscoliosis, Limitation of joint mobility, Hepatoblastoma, Coat hanger sign of ribs, Short nec... ORPHA:254519
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Pyknoachondrogenesis
Enlarged thorax, Sclerosis of skull base, Unossified sacrum, Short ribs, Poorly ossified vertebra... ORPHA:3003
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Joint hypermobility ORPHA:456328
Combined Immunodeficiency Due To Zap70 Deficiency
Failure to thrive, Lymphocytosis, Abnormality of the lymph nodes, Lymphoproliferative disorder, E... ORPHA:911
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatitis, Intrahepatic cholestasis, Ja... OMIM:613812
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Weight ... ORPHA:507
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Obesity, Hypopigmentation of hair, Iris hypopigmentation ORPHA:411515
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic ... OMIM:601847
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Supernumerary nipple, Short ribs, Abnormal rib morphology, Broad ribs ORPHA:2519
Severe Congenital Nemaline Myopathy
Flexion contracture, Thin ribs, Increased connective tissue, Abnormal thorax morphology, Arthrogr... ORPHA:171430
Piebaldism
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... ORPHA:2884
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomeg... ORPHA:824
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair, Weight loss ORPHA:2221
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Joint stiffness, Pectus carinatum, Hypogl... OMIM:609069
Kyphomelic Dysplasia
Limitation of joint mobility, Undulate ribs, Platyspondyly, Anterior rib cupping, Pterygium, Flat... OMIM:211350
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Failure to thrive, Hepatomega... OMIM:612714
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, H... ORPHA:848
Muenke Syndrome
Carpal synostosis, Hypermelanotic macule, Coronal craniosynostosis, Hypopigmentation of hair, Tar... ORPHA:53271
Menkes Disease
Narrow chest, Recurrent fractures, Pectus excavatum, Woolly hair, Sparse hair, Osteomyelitis, Ing... ORPHA:565
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Deafness-Lymphedema-Leukemia Syndrome