Gene Summary

Name:
ciliogenesis associated kinase 1
Synonyms:
2210420N10Rik,  Ick

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
increased neutrophil cell number Cilk1tm1b(KOMP)Mbp HOM Early adult 8.32×10-05
increased basophil cell number Cilk1tm1b(KOMP)Mbp HOM Early adult 1.43×10-06
enlarged heart Cilk1tm1b(KOMP)Mbp HOM Early adult 0.00
abnormal heart morphology Cilk1tm1b(KOMP)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 50% (2 of 4)
Aorta N/A heterozygote 50% (2 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 100% (4 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 50% (2 of 4)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 75% (3 of 4)
Cerebellum N/A heterozygote 100% (4 of 4)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote 50% (2 of 4)
Colon N/A heterozygote 100% (4 of 4)
Diaphragm N/A heterozygote 0.0% (0 of 4)
Duodenum N/A heterozygote 75% (3 of 4)
Epididymis N/A heterozygote 50% (2 of 4)
Esophagus N/A heterozygote 50% (2 of 4)
Eye N/A heterozygote 75% (3 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 50% (2 of 4)
Harderian gland N/A heterozygote 100% (4 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 100% (4 of 4)
Jejunum N/A heterozygote 50% (2 of 4)
Kidney N/A heterozygote 100% (4 of 4)
Large intestine N/A heterozygote 100% (4 of 4)
Liver N/A heterozygote 25% (1 of 4)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 50% (2 of 4)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 25% (1 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Midbrain N/A heterozygote 100% (4 of 4)
Olfactory lobe N/A heterozygote 50% (2 of 4)
Ovary N/A heterozygote 25% (1 of 4)
Oviduct N/A heterozygote 50% (2 of 4)
Pancreas N/A heterozygote 100% (4 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 50% (2 of 4)
Penis N/A heterozygote 25% (1 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A heterozygote 25% (1 of 4)
Sciatic nerve N/A heterozygote 50% (2 of 4)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 50% (2 of 4)
Small intestine N/A heterozygote 100% (4 of 4)
Spinal cord N/A heterozygote 100% (4 of 4)
Spleen N/A heterozygote 75% (3 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 100% (4 of 4)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 50% (2 of 4)
Submandibular gland N/A heterozygote 50% (2 of 4)
Testis N/A heterozygote 50% (2 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 50% (2 of 4)
Tongue N/A heterozygote 75% (3 of 4)
Trachea N/A heterozygote 100% (4 of 4)
Trigeminal V nerve N/A heterozygote 25% (1 of 4)
Urinary bladder N/A heterozygote 100% (4 of 4)
Uterus N/A heterozygote 50% (2 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vas deferens N/A heterozygote 50% (2 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 50% (2 of 4)
White adipose tissue N/A heterozygote Not available
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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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.

Adult LacZ

LacZ Images Section

105 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

33 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Human diseases caused by Cilk1 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 Cilk1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Endocrine-Cerebroosteodysplasia
Natal tooth, Thick upper lip vermilion, Fibular bowing, Micrognathia, Talipes equinovarus, Bowed ... OMIM:612651
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
OMIM:617924
Juvenile Myoclonic Epilepsy
ORPHA:307

The table below shows human diseases predicted to be associated to Cilk1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atelosteogenesis, Type Ii
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... OMIM:256050
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal lung lobation... ORPHA:2631
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Micrognathia, Abnormal morphology of ulna, Abnormal... ORPHA:3104
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,... OMIM:311895
Achondrogenesis Type 2
Hypoplastic ilia, Unossified sacrum, Cardiorespiratory arrest, Micromelia, Absent vertebral body ... ORPHA:93296
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... OMIM:184260
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Abnormal hip bone morphology, Abnormality of the neck, Polyd... ORPHA:294975
Ethanolaminosis
Cardiomegaly OMIM:227150
Metaphyseal Anadysplasia
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... ORPHA:1040
Heart-Hand Syndrome Type 2
Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder mor... ORPHA:1350
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Micrognathia, Decreased skull ossification, Short neck, Multiple pren... OMIM:616897
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i... OMIM:151210
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Aplasia/Hypoplasia of the f... ORPHA:2632
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Thanatophoric Dysplasia, Type I
Platyspondyly, Small abnormally formed scapulae, Hypoplastic ilia, Neonatal respiratory distress,... OMIM:187600
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valgum, Micrognath... ORPHA:56304
Dyssegmental Dysplasia, Silverman-Handmaker Type
Limitation of joint mobility, Broad long bones, Micrognathia, Narrow mouth, Encephalocele, Talipe... ORPHA:1865
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Overlapping fingers, Micrognathia, Knee flexion contracture... OMIM:616531
Catel-Manzke Syndrome
Ventriculomegaly, Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Joint st... ORPHA:1388
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial polydactyly, Genu valgu... OMIM:617927
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Radial bowing, Micromelia, Preaxial polydactyly, Intestinal malrotation, Microg... OMIM:617866
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metaphyseal trabecu... ORPHA:2635
Thanatophoric Dysplasia Type 1
Platyspondyly, Hypoplastic ilia, Micromelia, Frontal bossing, Respiratory insufficiency, Joint st... ORPHA:1860
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os... OMIM:600561
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, ... ORPHA:1423
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Poorly ossif... ORPHA:1263
Lethal Congenital Contracture Syndrome Type 1
Webbed neck, Pulmonary hypoplasia, Limitation of joint mobility, Slender long bone, Abnormal form... ORPHA:1486
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal dental morphology, Abnor... ORPHA:1837
Thanatophoric Dysplasia
Platyspondyly, Abnormal ilium morphology, Micromelia, Frontal bossing, Respiratory insufficiency,... ORPHA:2655
Achondroplasia
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Femoral bowing, Limited elbo... OMIM:100800
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Short nec... OMIM:253000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Syndactyly, Hydrocephalus, Postaxial hand polydactyly OMIM:615938
Dyssegmental Dysplasia, Silverman-Handmaker Type
Wide nasal bridge, Anisospondyly, Occipital encephalocele, Micromelia, Respiratory insufficiency,... OMIM:224410
Bowen-Conradi Syndrome
Ventriculomegaly, Camptodactyly of finger, Joint stiffness, Micrognathia, Orofacial cleft, Clinod... ORPHA:1270
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Arthrogryposis, Distal, Type 1C
Pursed lips, Narrow mouth, Hip contracture, Talipes equinovarus, Short neck, High palate, Cleft l... OMIM:619110
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Renal insufficiency, A... ORPHA:971
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal sacrum morpholo... ORPHA:1988
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Abnormality of the dentition, Joint stiffness, Bilateral single transverse palmar creases, Arachn... ORPHA:1548
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... OMIM:200600
Parastremmatic Dwarfism
Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Scoliosis, Kyphosis OMIM:168400
Atelosteogenesis Type I
Platyspondyly, Rhizomelia, Joint dislocation, Absent or minimally ossified vertebral bodies, Micr... ORPHA:1190
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Wide nasal bridge, Short finger, Respiratory insufficiency, Sclerosis of skull bas... OMIM:313420
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... ORPHA:2141
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Genu valgum, Micrognathia, Barrel-shaped chest, Limited elbow move... ORPHA:94068
Pallister-Hall-Like Syndrome
Toe syndactyly, Postaxial foot polydactyly, Micromelia, Occipital encephalocele, Microglossia, Mi... OMIM:241800
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short iliac bones, Flattene... OMIM:271530
Atelosteogenesis, Type I
Elbow dislocation, Radial bowing, Fibular aplasia, Micrognathia, Encephalocele, Neonatal death, T... OMIM:108720
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Dental crowding, Stillbirth, Elbow flexion contracture, Internally rot... OMIM:617468
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hand clenching, Arthrogryposis multiplex congenita, Micrognathia, Single transverse palmar crease... OMIM:611890
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Abnormal bone ossification, Flattened epiphysis, Flat acetabular roof, ... ORPHA:163649
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino... OMIM:613330
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... OMIM:215140
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia, Mesomelic arm... OMIM:249710
Achondrogenesis Type 1A
Micromelia, Abnormal enchondral ossification, Long philtrum, Short nose, Micrognathia, Multiple r... ORPHA:93299
Achondrogenesis Type 1B
Micromelia, Thickened nuchal skin fold, Abnormal enchondral ossification, Long philtrum, Microgna... ORPHA:93298
Cerebrooculofacioskeletal Syndrome 3
Ventriculomegaly, Micrognathia, Talipes equinovarus, Cleft palate, Rocker bottom foot, Arthrogryp... OMIM:616570
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short hu... OMIM:619598
Microcephaly-Micromelia Syndrome
Cystic hygroma, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Narrow mouth, ... OMIM:251230
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Sh... OMIM:251450
Gillessen-Kaesbach-Nishimura Syndrome
Thickened nuchal skin fold, Abnormal lung lobation, Micrognathia, Decreased skull ossification, S... OMIM:263210
Stuve-Wiedemann Syndrome 1
Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Talipe... OMIM:601559
Osteogenesis Imperfecta, Type X
Thin ribs, Genu valgum, Micrognathia, Fibular bowing, Death in childhood, Bowing of the long bone... OMIM:613848
Diaphanospondylodysostosis
Webbed neck, Unossified sacrum, Tracheomalacia, Respiratory insufficiency, Micrognathia, Increase... OMIM:608022
Fetal Akinesia Deformation Sequence 4
Wide nasal bridge, Broad neck, 11 pairs of ribs, Micrognathia, Prenatal death, Neonatal death, Sh... OMIM:618393
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Thick upper lip vermilion, Hypoplastic iliac wing, Carpal bone h... OMIM:611717
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad long bones, Thick upper lip vermilion, Abnormal metatarsal morphology, Low posterior hairli... ORPHA:163654
Lethal Congenital Contracture Syndrome 11
Microretrognathia, Elbow flexion contracture, Distal arthrogryposis, Flexion contracture of finge... OMIM:617194
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Radial bowing, Short tibia, Abnormal ... OMIM:127300
Fibular Aplasia-Complex Brachydactyly Syndrome
Synostosis of carpal bones, Abnormal epiphysis morphology, Limitation of joint mobility, Micromel... ORPHA:2639
Osseous Heteroplasia, Progressive
Ankylosis, Ectopic ossification in muscle tissue, Limb undergrowth OMIM:166350
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Wide nasal bridge, Rhizomelia, Abnormal epiphysis morphology, Downturned corners o... ORPHA:93267
Acrocapitofemoral Dysplasia
Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Long philtrum, Short toe, Ol... ORPHA:2756
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Micrognathia, Tibial bowing, Abnormality of the lower limb, Bowing of the long bon... ORPHA:3035
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Ullrich Congenital Muscular Dystrophy
Slender finger, Hip dislocation, Elbow flexion contracture, Wrist hypermobility, Micrognathia, In... ORPHA:75840
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob... ORPHA:93284
Monosomy 5P
Wide nasal bridge, Small hand, Microretrognathia, Finger syndactyly, Joint hypermobility, Abnorma... ORPHA:281
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calc... ORPHA:163966
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm... ORPHA:628
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Wide nasal bridge, Abnormal form of the vertebral bodies, Abnormal lip morphology, Aplasia/Hypopl... ORPHA:2759
Craniofacial Conodysplasia
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Anauxetic Dysplasia 2
Macroglossia, Posterior wedging of vertebral bodies, Hypoplasia of the femoral head, Cubitus valg... OMIM:617396
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Joint dislocation, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Micr... ORPHA:1842
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Bilateral... OMIM:253010
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Carious teeth, Dysplasia of the femoral head, Micrognathia, Arachnodact... ORPHA:536467
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Micropenis, Anal atresia, Polycystic kidney dysplasia, Cone-shaped epiphysis... OMIM:613091
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Lumbar hy... OMIM:618167
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Joint stiffness,... ORPHA:1275
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... ORPHA:1570
Multiple Synostoses Syndrome 3
Cutaneous syndactyly of toes, Broad thumb, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Cystic hygroma, Hydranencephaly, Microretrognathia, Redundant neck skin, Single transverse palmar... OMIM:236500
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... OMIM:200700
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Postaxial hand polydactyly OMIM:615937
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Short distal phalanx of the 5th finger, Congenital pulmonary airway malformation, Wide mouth, Sho... OMIM:113477
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... OMIM:174400
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Wide nasal bridge, Finger syndactyly, Long philtrum, Abnormality of the wrist, Wide mouth, Abnorm... ORPHA:1825
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Acromesomelic Dysplasia, Maroteaux Type
Acromesomelia, Vertebral wedging, Abnormal form of the vertebral bodies, Frontal bossing, Joint s... ORPHA:40
Mosaic Trisomy 14
Wide nasal bridge, Lower limb asymmetry, Camptodactyly of finger, Micrognathia, Wide mouth, Bilat... ORPHA:1703
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... ORPHA:93323
Brachyolmia Type 1, Toledo Type
Lumbar hyperlordosis, Precocious costochondral ossification, Squared-off platyspondyly, Abnormal ... OMIM:271630
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Cystic hygroma, Joint dislocation, Cleft upper lip, Short finger, Micrognathia, Increa... OMIM:312150
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Microme... ORPHA:85166
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Micrognathia, Narrow mouth, Intervertebral space narrowing, Radial head subluxation,... OMIM:614078
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu... OMIM:614091
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormality of the dentition, Ventriculomegaly, Clinodactyly, Joint hypermobility ORPHA:500166
Raine Syndrome
Natal tooth, Long hallux, Micrognathia, Narrow mouth, Protruding tongue, Neonatal death, Bowing o... OMIM:259775
Intellectual Developmental Disorder, Autosomal Dominant 26
Wide nasal bridge, Arthrogryposis multiplex congenita, Micrognathia, Narrow mouth, Wide mouth, De... OMIM:615834
Endocrine-Cerebroosteodysplasia
Natal tooth, Thick upper lip vermilion, Fibular bowing, Micrognathia, Talipes equinovarus, Bowed ... OMIM:612651
Barth Syndrome
Abnormality of neutrophils, Endocardial fibroelastosis, Dilated cardiomyopathy ORPHA:111
Pierre Robin Syndrome
Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Limitation of joint mobility, Abnormal epiphysis morp... ORPHA:3098
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Encephalocele, Anal atresia, Flat acetabular roof, Cleft lip, Hamartoma... OMIM:616300
Frank-Ter Haar Syndrome
Genu recurvatum, Wide nasal bridge, Delayed eruption of teeth, Camptodactyly of finger, Osteolysi... ORPHA:137834
Achondrogenesis
Micromelia, Abnormal enchondral ossification, Long philtrum, Micrognathia, Short neck, Aplasia/Hy... ORPHA:932
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Abnormal palate morphology, Brachydac... ORPHA:1277
Acro-Renal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Short neck,... ORPHA:958
Craniosynostosis, Herrmann-Opitz Type
Webbed neck, Finger syndactyly, Micromelia, Micrognathia, Turricephaly, Brachycephaly, Aplasia/Hy... ORPHA:2145
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Pulmonary hypoplasia, Micromelia, Long philtrum, Prominent occiput, Horizontal ... OMIM:617895
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca... ORPHA:2633
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Micrognathia, Hip contracture, Talipes, Short neck, High palate, Short nose, Spinal ri... OMIM:620369
Aase-Smith Syndrome
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Joint stiffness, Abnor... ORPHA:916
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Neonatal respiratory distress, Coarse metaphyseal trabecularization, Thoracic platyspondyly, Deat... OMIM:618961
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal metaphysi... ORPHA:2370
Tetrasomy X
Abnormality of the dentition, Joint hypermobility, Radioulnar synostosis, Brachydactyly, Hip dysp... ORPHA:9
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormal thumb morphology, Radioulnar synostosis, Aplasia/Hypoplasia o... ORPHA:3266
Congenital Disorder Of Glycosylation, Type In
Respiratory insufficiency, Micrognathia, Pes valgus, Short neck, Adducted thumb, Recurrent lower ... OMIM:612015
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Cleft upper lip, Frontal bossing, Widely spaced teeth, Trigonocephaly, Tented upper l... OMIM:612530
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Patellar aplasia... OMIM:265000
Biemond Syndrome Type 2
Hypospadias, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Widely spaced teeth, R... OMIM:135100
Multiple Epiphyseal Dysplasia Type 4
Limitation of joint mobility, Radial bowing, Hypoplastic cervical vertebrae, Premature osteoarthr... ORPHA:93307
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Microglossia, Aplasia/Hypoplasia of the radius, Microretrognathia, Oligodactyly... ORPHA:1307
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Sillence Syndrome
Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... ORPHA:3168
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Thickened nuchal skin fold, Myelomeningoce... ORPHA:2437
Simpson-Golabi-Behmel Syndrome, Type 2
Ventriculomegaly, Broad thumb, Short finger, Postaxial hand polydactyly, High palate OMIM:300209
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Fragmentation of the metacarpal epiphyses, Arthralgia of the hip, Abnormal epiphysis morphology, ... ORPHA:166002
Pelviscapular Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Abnormality of the joint spac... ORPHA:93333
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... ORPHA:457395
Thanatophoric Dysplasia Type 2
Platyspondyly, Limitation of joint mobility, Micromelia, Frontal bossing, Respiratory insufficien... ORPHA:93274
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Webbed neck, Long philtrum, Overlapping toe, Overlapping fingers, Exaggerated ... OMIM:618316
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Joint stiffness, Oligohydramnios, Abnormal morphology of ulna, ... ORPHA:2167
Larsen-Like Syndrome, Lethal Type
Multiple joint dislocation, Joint dislocation, Tracheomalacia, Respiratory insufficiency, Neonata... OMIM:245650
Lethal Congenital Contracture Syndrome 10
Narrow palate, Long philtrum, Stiff neck, Broad ribs, Overlapping fingers, Micrognathia, Femoral ... OMIM:617022
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Arthralgia of the hip, Abnormality of the epiphyses of the fe... ORPHA:93311
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Cystic hygroma, Joint dislocation, Short finger, Micrognathia, Increased susceptibilit... OMIM:253290
Mucopolysaccharidosis Type 4
Platyspondyly, Abnormality of the dentition, Carious teeth, Joint dislocation, Abnormal epiphysis... ORPHA:582
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Abnormal vertebral morphology, Delayed epiphyseal ossification, Wide nasal bridge, Clinodactyly, ... ORPHA:166024
Hyperekplexia 4
Kyphoscoliosis, Talipes equinovarus, Distal arthrogryposis, Adducted thumb, High palate, Camptoda... OMIM:618011
Acrocephalopolydactyly
Genu recurvatum, Oxycephaly, Short neck, Limb undergrowth, Brachydactyly, Short long bone, Cystic... ORPHA:221054
Autosomal Dominant Spondylocostal Dysostosis
Wide nasal bridge, Abnormal sacrum morphology, Prominent occiput, Vertebral segmentation defect, ... ORPHA:1797
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Fountain Syndrome
Short distal phalanx of finger, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, ... ORPHA:3219
Blepharophimosis-Impaired Intellectual Development Syndrome
Recurrent bronchitis, Talipes equinovarus, Pes planus, Plagiocephaly, Thin upper lip vermilion, C... OMIM:619293
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the dentition, Finger syndactyly, Radioulnar synostosis, Abnormality of the philtr... ORPHA:3268
Orofaciodigital Syndrome Xv
Ventriculomegaly, Midline notch of upper alveolar ridge, Broad hallux, Hydronephrosis, Duplicatio... OMIM:617127
Pseudodiastrophic Dysplasia
Platyspondyly, Webbed neck, Rhizomelia, Hypoplasia of the odontoid process, Elbow dislocation, Fr... OMIM:264180
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,... OMIM:613320
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory insufficiency due to muscle weakness, Flexion contracture, Scol... OMIM:300717
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... OMIM:311300
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Abnormality of the plantar skin of foot, Widel... ORPHA:487825
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Wide nasal bridge, Micrognathia, Clinodactyly of the 5th finger, Open mouth, Dolichocephaly, Shor... ORPHA:1516
Nicolaides-Baraitser Syndrome
High, narrow palate, Clubbing of toes, Broad distal phalanx of finger, Joint dislocation, Abnorma... ORPHA:3051
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Wide nasal bridge, Cone-shaped epiphysis, Short toe, Broad hallux, Short finger, Long philtrum, M... OMIM:618659
Three M Syndrome 1
Short 5th finger, Neonatal respiratory distress, Joint dislocation, Slender long bone, Long philt... OMIM:273750
Alpha-Mannosidosis
Synostosis of joints, Craniofacial hyperostosis, Narrow palate, Dental malocclusion, Widely space... ORPHA:61
Otospondylomegaepiphyseal Dysplasia
Abnormal vertebral morphology, Epiphyseal dysplasia, Limitation of joint mobility, Abnormal joint... ORPHA:1427
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Arachnodactyly, 2-3 finger syndactyly, Broad toe, ... ORPHA:1692
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Joint hypermobility, ... OMIM:250460
Familial Scaphocephaly Syndrome, Mcgillivray Type
Ventriculomegaly, Toe syndactyly, Open bite, High palate, Broad hallux phalanx ORPHA:168624
Congenital Disorder Of Glycosylation, Type Iy
Joint dislocation, Clinodactyly, Widely spaced teeth, Micrognathia, Scoliosis, Wide mouth OMIM:300934
Pierpont Syndrome
Broad foot, Short neck, Everted lower lip vermilion, Prominent subcalcaneal fat pad, Short foot, ... OMIM:602342
Autosomal Recessive Multiple Pterygium Syndrome
Limitation of joint mobility, Finger syndactyly, Micrognathia, Low posterior hairline, High palat... ORPHA:2990
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Mesomelia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Micro... OMIM:602418
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Micrognathia, Thin upper lip vermilion, Short neck, Cleft palate, ... ORPHA:2015
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Toe syndactyly, Elbow flexion contracture, High palate, Knee flexion contracture, Hip... OMIM:616809
Greenberg Dysplasia
Platyspondyly, Rhizomelia, Abnormal form of the vertebral bodies, Micromelia, Abnormal pelvis bon... ORPHA:1426
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Webbed neck, Arthrogryposis multiplex congenita, Clinodactyly, Respiratory insufficiency, Single ... ORPHA:178148
Sprengel Deformity
Abnormal shoulder morphology, Abnormality of the shoulder girdle musculature, Short neck, Tortico... ORPHA:3181
Marden-Walker Syndrome
High, narrow palate, Joint contracture of the hand, Congenital contracture, Long philtrum, Microg... OMIM:248700
Fibrochondrogenesis 1
Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Broad long bones, Nar... OMIM:228520
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Platyspondyly, Metaphyseal irregularity, Multiple joint dislocation, Short femoral nec... OMIM:618395
Isolated Pierre Robin Syndrome
Micrognathia, Glossoptosis, Cleft palate ORPHA:718
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Subluxation of the small joints of the hand, Micrognathia, Dysplas... ORPHA:536471
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Ventriculomegaly, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Occip... OMIM:616546
Kondoh Syndrome
Interphalangeal joint contracture of finger, Long philtrum, Preaxial hand polydactyly, Knee flexi... OMIM:606242
Brachydactyly-Preaxial Hallux Varus Syndrome
Broad thumb, Preaxial hand polydactyly, Radial club hand, Micrognathia, Abnormal palate morpholog... ORPHA:1278
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Autosomal Recessive Robinow Syndrome
Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Broad thumb, Op... ORPHA:1507
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Respiratory insufficiency, Talipes equinovarus, Pectus excavatum, High p... OMIM:614399
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Hydrolethalus Syndrome 2
Ventriculomegaly, Postaxial foot polydactyly, Preaxial foot polydactyly, Micrognathia, Hydrocepha... OMIM:614120
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... ORPHA:380
Diastrophic Dysplasia
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg... OMIM:222600
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Ventriculomegaly, Gingival overgrowth, Camptodactyly of finger, Flexion contracture of toe OMIM:619323
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Platyspondyly, Rhizomelia, Metaphyseal cupping, Aplastic clavicle, Abnormal... ORPHA:50945
Primary Basilar Invagination
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck, Platybasia ORPHA:2285
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Micrognathia, Cleft soft palate, Short nose, Oligodontia, Thin upper l... OMIM:616331
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Short ribs, Low posterior... ORPHA:1803
Atelosteogenesis, Type Iii
Rhizomelia, Cervical kyphosis, Tombstone-shaped proximal phalanges, Elbow dislocation, Radial bow... OMIM:108721
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,... ORPHA:93351
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Autosomal Spastic Paraplegia Type 18
Spinal rigidity, Ankle flexion contracture, Elbow flexion contracture, Neck joint contracture, Kn... ORPHA:209951
Rhizomelic Limb Shortening With Dysmorphic Features
Short 5th finger, Wide nasal bridge, Rhizomelia, Plagiocephaly, Prominent fingertip pads, Short t... OMIM:618821
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Preaxial polydactyly, Overlapping fingers, Overlapping toe, Crossed fu... OMIM:618142
Tetrasomy 5P
Wide nasal bridge, Long philtrum, Overlapping toe, Micrognathia, High palate, Redundant neck skin... ORPHA:3309
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Finger syndactyly,... ORPHA:3429
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... OMIM:186350
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Stillbirth, Short nose, Advanced tarsal ossification, Cleft ... OMIM:269250
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Small epiphyses, Joint hypermobility, Coxa val... OMIM:620269
Solitary Bone Cyst
Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti... ORPHA:83468
Acrodysostosis
Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol... ORPHA:950
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Lumbar kyphoscoli... OMIM:156550
Hall-Riggs Syndrome
Platyspondyly, Wide nasal bridge, Abnormal epiphysis morphology, Downturned corners of mouth, Del... ORPHA:2107
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Finger syndactyly, Camptodactyly of finger, Long philtrum,... ORPHA:2311
Cantú Syndrome
Platyspondyly, Short distal phalanx of finger, Wide nasal bridge, Finger syndactyly, Deep plantar... ORPHA:1517
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Hip dislocation, Hand clenching, Arthrogryposis multiplex congenita, ... OMIM:618291
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Hand clenching, Micrognathia, Narrow mouth, Death in childhood, Death in infancy, Short neck, Thi... OMIM:618766
Pallister-Hall Syndrome
Toe syndactyly, Natal tooth, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal dea... OMIM:146510
Acromicric Dysplasia
Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Long philtrum, Thic... ORPHA:969
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ... OMIM:611263
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Whistling Face Syndrome, Recessive Form
Whistling appearance, Ulnar deviation of finger, Microglossia, Shoulder flexion contracture, Long... OMIM:277720
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Micrognathia, Abnormal metacarpal morphology, Osteoarthritis, Glossoptosis, Cleft ... ORPHA:166100
Ivic Syndrome
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Radioulnar synostosis, C... OMIM:147750
Trisomy 4P
Abnormality of the dentition, Carious teeth, Preaxial hand polydactyly, Radial club hand, Camptod... ORPHA:1738
Isolated Congenital Hypoglossia/Aglossia
Micrognathia, Aplasia/Hypoplasia of fingers, Microglossia, Cleft palate ORPHA:141152
Sheldon-Hall Syndrome
Wide nasal bridge, Webbed neck, Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abno... ORPHA:1147
Lethal Osteosclerotic Bone Dysplasia
Delayed cranial suture closure, Micrognathia, Gingival overgrowth, Median cleft palate, Short nec... ORPHA:1832
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Preax... OMIM:252100
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Micrognathia, Neonatal death, Low posterior hairline, Short neck, Cleft... OMIM:617925
Spondylocostal Dysostosis 1, Autosomal Recessive
Cystic hygroma, Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Vertebra... OMIM:277300
Joubert Syndrome 18
Occipital encephalocele, Horseshoe kidney, Trident pelvis, Joint hypermobility, Bowing of the lon... OMIM:614815
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Abnormal lung lobation, Preaxial hand polydactyly, T... ORPHA:1120
Anauxetic Dysplasia 3
Platyspondyly, Broad middle phalanx of finger, Metaphyseal cupping, Plagiocephaly, Hip subluxatio... OMIM:618853
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Short neck, Anterior rib cupp... OMIM:271665
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Fetal Akinesia Deformation Sequence
Arthrogryposis multiplex congenita, Camptodactyly of finger, Pterygium, Respiratory insufficiency... ORPHA:994
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Short toe, Microme... ORPHA:429
X-Linked Intellectual Disability, Siderius Type
Orofacial cleft, Large hands, Cleft upper lip, Preaxial hand polydactyly ORPHA:85287
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Limitation of joint mobility, Arthralgia of the hip, Joint stiff... ORPHA:93308
C Syndrome
Postaxial foot polydactyly, Toe syndactyly, Clinodactyly, Micrognathia, Thick anterior alveolar r... OMIM:211750
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Narrow vertebral interpedicular distance, Short neck, Genu varum... OMIM:602557
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Wide nasal bridge, Symphalangism of the thumb, Short toe, Clinodactyly, Finger joint contracture,... OMIM:620494
Clark-Baraitser Syndrome
Sandal gap, Clinodactyly, Downturned corners of mouth, Long philtrum, Exaggerated cupid's bow, Th... OMIM:617752
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Di... OMIM:300863
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Spastic Paraplegia 47, Autosomal Recessive
Genu recurvatum, Wide nasal bridge, Acetabular dysplasia, Short philtrum, Talipes equinovarus, Pe... OMIM:614066
Melkersson-Rosenthal Syndrome
Facial edema, Furrowed tongue OMIM:155900
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly, Microglossia, Short thumb OMIM:616540
Noonan Syndrome 13
Clinodactyly, Overlapping toe, Micrognathia, Low posterior hairline, Short neck, Pes planus, Bila... OMIM:619087
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... OMIM:268310
Fibrodysplasia Ossificans Progressiva
Abnormal vertebral morphology, Synostosis of joints, Limitation of joint mobility, Respiratory in... ORPHA:337
Fibular Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna ORPHA:1118
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microglossia, Microretrognathia, Sandal gap, Short tibia, Short thumb, Radial c... ORPHA:1972
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Short humerus, Neonatal death... OMIM:314390
Kagami-Ogata Syndrome
Thin ribs, Long philtrum, Micrognathia, Kyphoscoliosis, Limb undergrowth, Long fingers, Flexion c... OMIM:608149
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f... ORPHA:2928
Distal Monosomy 7Q36
Abnormal calvaria morphology, Micrognathia, Wide mouth, Bilateral single transverse palmar crease... ORPHA:1636
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Respiratory insufficiency, Decreased cervical spine mobility, M... ORPHA:370968
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula... OMIM:200980
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Limitation of joint mobility, Camptodactyly of finger, Abnormal pleura morpholog... ORPHA:2570
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Broad foot, Neonatal death, Short neck, Holoprosencephaly, Sho... OMIM:269860
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Foot oligodactyly, Amelia, Anterior encephalocele, Bilateral cleft palate, Bilat... OMIM:601357
48,Xyyy Syndrome
Recurrent upper respiratory tract infections, Long philtrum, Abnormal foot morphology, Thick lowe... ORPHA:99329
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Respiratory insufficiency, Myelomeningocele, Punctate vertebral c... ORPHA:1914
3M Syndrome
Thin ribs, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Abnormality of the elbow,... ORPHA:2616
Terminal Osseous Dysplasia
Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg shortening, Mul... OMIM:300244
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Carpal bone hypoplasia, Short neck, Thoracolumbar scoliosis, Short metacarpal, S... OMIM:616723
Meckel Syndrome 14
Postaxial foot polydactyly, Microretrognathia, Occipital encephalocele, Cardiorespiratory arrest,... OMIM:619879
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtrum, Thick lower lip vermilio... OMIM:102370
Spondylometaphyseal Dysplasia, Kozlowski Type
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral... OMIM:184252
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Upper limb undergrowth, Pulmonary hypoplasia OMIM:613124
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Limb undergrowth, Abnormal limb bone morphology, Polyhydramnio... ORPHA:2204
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Beaking of vertebral bodies, Pes planus, Broad toe, Flat acetabular roof,... OMIM:609616
Gordon Syndrome
Limitation of joint mobility, Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th... ORPHA:376
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Broad foot, Short neck, Pes planus, Radial head subluxation, A... OMIM:615777
Arthrogryposis, Distal, Type 2B1
Wide nasal bridge, Webbed neck, Rocker bottom foot, Arthrogryposis multiplex congenita, Long phil... OMIM:601680
Disorganization, Mouse, Homolog Of
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate OMIM:223200
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Short neck, Flat acetabular roo... OMIM:271700
Braddock Syndrome
Neonatal respiratory distress, Preaxial hand polydactyly, Micrognathia, Congenital muscular torti... ORPHA:52047
Ventriculomegaly And Arthrogryposis
Hand clenching, Ventriculomegaly, Micrognathia, Talipes equinovarus, Arthrogryposis multiplex con... OMIM:619501
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Achondroplasia
Flat acetabular roof, Cervical spinal canal stenosis, Limited elbow extension, Knee joint hypermo... ORPHA:15
Three M Syndrome 3
Slender long bone, Long philtrum, Increased vertebral height, Thick vermilion border, Joint hyper... OMIM:614205
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... OMIM:252500
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Pursed lips, Narrow mouth, Hip contracture, Talipes equinovarus, S... OMIM:193700
Congenital Myopathy 1B, Autosomal Recessive
Respiratory insufficiency, Joint hypermobility, High palate, Recurrent respiratory infections, Sc... OMIM:255320
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Arthrogryposis, Distal, Type 1A
Hand clenching, Joint contracture of the hand, Overlapping toe, Overlapping fingers, Narrow mouth... OMIM:108120
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Smith-Mccort Dysplasia 1
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... OMIM:607326
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Micromelia, Posterior rib cupping, Metaphyseal spurs, Irregular epiphyses, Lumbar ... OMIM:608728
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia, Toe syndactyly, Amelia, Decreased skull ossification, Clinodactyly of the 5... OMIM:601163
Masa Syndrome
Clinodactyly of the 5th finger, Hand clenching, Ventriculomegaly, Camptodactyly of finger ORPHA:2466
Desbuquois Syndrome
Genu recurvatum, Small hand, Elbow dislocation, Camptodactyly of finger, Abnormal metaphysis morp... ORPHA:1425
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Encephalocele, Limited elbow movement, Rad... OMIM:134780
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Opsismodysplasia
Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flat acetabular roof, Hypop... OMIM:258480
Odontochondrodysplasia
Platyspondyly, Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Micromelia, ... ORPHA:166272
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Heart Defects-Limb Shortening Syndrome
Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnormality of the p... ORPHA:1354
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Bowing o... OMIM:255800
Cofs Syndrome
Wide nasal bridge, Camptodactyly of finger, Joint stiffness, Micrognathia, Death in infancy, Tali... ORPHA:1466
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Microglossia, Radial deviation of the hand, Short thumb, Micrognathia, Narrow m... OMIM:227270
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Wide mouth, Low posterior hairline, Thin upper lip vermilion, Everted lower lip vermilion, Short ... ORPHA:2429
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Broad foot, Talipes, Short neck, Pes planus, Everted lower lip ver... ORPHA:915
Alg3-Cdg
Osteopenia, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Macroglossia, High palat... ORPHA:79321
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Hip osteoarthritis, Delayed epiphyseal ossification, Broad femoral neck, Ir... OMIM:132400
Rhizomelic Chondrodysplasia Punctata
Abnormality of the dentition, Rhizomelia, Limitation of joint mobility, Abnormal epiphysis morpho... ORPHA:177
Smith-Mccort Dysplasia 2
Platyspondyly, Hypoplasia of the odontoid process, Broad femoral neck, Enlarged interphalangeal j... OMIM:615222
Osteogenesis Imperfecta
Thin ribs, Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Mi... ORPHA:666
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Carious teeth, Flared metaphysis, Limited ... ORPHA:93346
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Decreased skull ossifi... ORPHA:1452
Congenital Disorder Of Glycosylation, Type Ig
Recurrent upper respiratory tract infections, Recurrent pneumonia, Rhizomelia, Short tibia, Sanda... OMIM:607143
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
High palate, Abnormal metacarpal morphology, Abnormal morphology of ulna ORPHA:2233
Cornelia De Lange Syndrome 2
Small hand, Clinodactyly, Downturned corners of mouth, Micrognathia, Limited elbow movement, Thin... OMIM:300590
Radio-Renal Syndrome
High, narrow palate, Chylothorax, Abnormal form of the vertebral bodies, Micromelia, Downturned c... ORPHA:3015
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Micrognathia, Open mouth, Encephalocele, Irregular dentition, Talipes equinovaru... OMIM:619148
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Epiphyseal stippling OMIM:614876
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Y-s... OMIM:175700
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Genu valgum, Micrognathia, Hip contracture, Pes planus, Flattened epiphysis, High ... OMIM:618363
Anauxetic Dysplasia 1
Atlantoaxial dislocation, Hip contracture, Barrel-shaped chest, Short neck, Short foot, Hypoplast... OMIM:607095
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, Fe... OMIM:602080
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Coronal craniosynostosis, Small hand, Natal tooth, Dental crowding, Long philt... OMIM:145420
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Hypoplasia of the odontoid process, Broad foot, Short neck, Anterior rib cupping, Flat... OMIM:300232
Infantile Sialic Acid Storage Disease
Osteopenia, Ascites, Gingival overgrowth, Hydrocephalus, Nephrotic syndrome, High palate, Hydrops... OMIM:269920
Caudal Regression Syndrome
Pulmonary hypoplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, J... ORPHA:3027
Tonne-Kalscheuer Syndrome
Wide nasal bridge, Broad thumb, Velopharyngeal insufficiency, Downturned corners of mouth, Widely... OMIM:300978
Lethal Congenital Contracture Syndrome 1
Micrognathia, Neonatal death, Widening of cervical spinal canal, Arthrogryposis multiplex congeni... OMIM:253310
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Ophthalmomandibulomelic Dysplasia
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... ORPHA:2741
1Q21.1 Microduplication Syndrome
Arthrogryposis multiplex congenita, Talipes equinovarus, Hydrocephalus, Hip dysplasia, Hypospadia... ORPHA:250994
Orofaciodigital Syndrome Xvii
High, narrow palate, Renal hypoplasia, Ventriculomegaly, Clinodactyly, Short middle phalanx of th... OMIM:617926
Dysostosis, Stanescu Type
Carious teeth, Bowing of the long bones, Short neck, Increased bone mineral density, Brachydactyl... ORPHA:1798
Maternal Uniparental Disomy Of Chromosome 9
Abnormal vertebral morphology, Micrognathia, Hamstring contractures, Kyphoscoliosis, Short neck, ... ORPHA:96183
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Ring Chromosome 6 Syndrome
Wide nasal bridge, Short distal phalanx of finger, Respiratory insufficiency, Low posterior hairl... ORPHA:1448
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Death in early adulthood, Open mouth, Pes planus, Everted lower lip ve... ORPHA:192
Kyphomelic Dysplasia
Limitation of joint mobility, Abnormal form of the vertebral bodies, Micromelia, Joint stiffness,... ORPHA:1801
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Arthrogryposis-like hand anomaly, Plagiocephaly, Clinodactyly, Downturned corn... ORPHA:369891
Mesomelia-Synostoses Syndrome
Synostosis of joints, Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia... ORPHA:2496
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Delayed epiphyseal ossification, Premature osteoarthritis, Squared... ORPHA:93352
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Abnormal cartilage mat... ORPHA:86822
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Micrognathia, Acces... OMIM:258860
Craniofrontonasal Dysplasia
Finger syndactyly, Low posterior hairline, High palate, Plagiocephaly, Orofacial cleft, Brachydac... ORPHA:1520
Suleiman-El-Hattab Syndrome
Wide nasal bridge, Webbed neck, Microretrognathia, Clinodactyly, Downturned corners of mouth, Lon... OMIM:618950
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Finger syndactyly, Micrognathia, 2-5 finger syndactyly, Absent toe, Syndact... OMIM:308050
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Anterior rib cupp... OMIM:211350
Lower Limb Malformation-Hypospadias Syndrome
Lower limb asymmetry, Respiratory insufficiency, Abnormal tibia morphology, Short neck, Sacral di... ORPHA:2487
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Micrognathia, Orbital craniosynostosis, Dandy-Walker malformation ORPHA:1538
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Limitation of joint mobility, Micromelia, Broad long bones, Microg... OMIM:224400
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Downturned corners of mouth, Lateral ventricle dilatation, Dilated fourth ventr... OMIM:613443
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Micrognathia, Wide mouth, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Joint contrac... OMIM:615419
Laurin-Sandrow Syndrome
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Downturned corners of mouth, Pre... ORPHA:2378
Albers-Schönberg Osteopetrosis
Abnormality of the dentition, Short distal phalanx of finger, Carious teeth, Mandibular osteomyel... ORPHA:53
Hypochondroplasia
Flared metaphysis, Frontal bossing, Lumbar hyperlordosis, Limited elbow extension, Trident hand, ... OMIM:146000
X-Linked Intellectual Disability, Cabezas Type
Small hand, Toe syndactyly, Sandal gap, Camptodactyly of finger, Open bite, Thick lower lip vermi... ORPHA:85293
17P13.3 Microduplication Syndrome
Congenital hip dislocation, Narrow mouth, Short neck, Clinodactyly of the 5th finger, High palate... ORPHA:217385
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Limitation of joint mobility, Short t... ORPHA:90650
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Polysyndactyly of hallux, Microglossia, Postaxial polysyndactyly of foot, Preaxial... OMIM:263520
Arthrogryposis, Distal, Type 3
Overlapping toe, Micrognathia, Cutaneous finger syndactyly, Talipes equinovarus, Short neck, Thor... OMIM:114300
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Epiphyseal dysplasia, Vertebral wedging, Hypoplasia of the capital femoral epiphys... OMIM:617719
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Micromelia, Femoral bowing, Micrognathia, Dumbbell-shaped long ... ORPHA:440354
Cantu Syndrome
Platyspondyly, Wide nasal bridge, Erlenmeyer flask deformity of the femurs, Broad hallux, Long ph... OMIM:239850
Microtriplication 11Q24.1
Small hand, Joint dislocation, Limitation of joint mobility, Genu valgum, Talipes equinovarus, Sh... ORPHA:289522
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Wide nasal bridge, Neonatal respiratory distress, Congenital contracture, Pursed lips, Long philt... OMIM:616266
Ulbright-Hodes Syndrome
Thin ribs, Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synostosis, Talipes equinova... ORPHA:3404
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Ventriculomegaly, Joint hypermobility, Arachnodactyly, Glomerulonephritis... ORPHA:2172
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Trigonocephaly, Wide mouth, Exaggerated cupid's bow, Thick vermilion border, Clinodactyly of the ... OMIM:618506
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck morphology, Microm... ORPHA:63446
Myopathy, X-Linked, With Postural Muscle Atrophy
Limited neck flexion, Respiratory insufficiency, Hamstring contractures, Short neck, Scapular win... OMIM:300696
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Small abnormally formed scapulae, Hypoplastic ilia, Micromelia, Flared metaphysis,... OMIM:187601
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Wide nasal bridge, Small hand, Clinodactyly, Long philtrum, Thin upper lip vermilion, Brachydacty... OMIM:614684
Chondrodysplasia, Blomstrand Type
Fetal ascites, Micromelia, Flared metaphysis, Stillbirth, Micrognathia, Short ribs, Generalized o... OMIM:215045
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
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