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Gene: Ddr2 MGI:1345277

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
discoidin domain receptor family, member 2
Synonyms:
Ntrkr3

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ddr2 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 Ddr2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Disproportionate short-limb short stature, Triangular shaped distal phalanges of the hand, Short ... OMIM:271665
Warburg-Cinotti Syndrome
Underdeveloped nasal alae, Osteolytic defects of the phalanges of the hand, Flexion contracture o... OMIM:618175

The table below shows human diseases predicted to be associated to Ddr2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Nondisjunction
Decreased fertility OMIM:158250
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Decreased testicular size, Short stature, Deeply set eye, Hypogonadism, Intrauter... OMIM:300869
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Hypospadias, Hypergonadotropic hypogonadism, Decreased ... ORPHA:163971
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Hypergonadotropic hypogonadism, Decr... ORPHA:163976
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Decreased circulating luteinizing hormone lev... OMIM:228300
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
49,Xxxyy Syndrome
Increased circulating gonadotropin level, External genital hypoplasia, Abnormality of the testis ... ORPHA:261534
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Gonadal dysgenesis with female appearan... OMIM:273250
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Hypoplasia of the uterus, Stre... ORPHA:168563
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Anosm... OMIM:614841
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Small pituitary gland, Anosmia, Osteoporosis, Decreased testicular size, Primary amen... OMIM:614880
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ... ORPHA:90793
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Hyposmia, Decreased circulating follicle stimulating hormone concentration, Decrease... OMIM:614897
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Ambiguous genitalia, male, Clitoral hypertro... ORPHA:90791
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Reduced bon... ORPHA:90796
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Primary... OMIM:618841
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Delayed puberty, Small pituitary gland, Hyposmia, Anosmia, Primary amenorrhea, Cryptorchidism, Mi... OMIM:612702
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
49,Xyyyy Syndrome
Increased circulating gonadotropin level, External genital hypoplasia, Azoospermia, Abnormality o... ORPHA:99330
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Absence of secondary sex characteristics, Abnormal labia morphology, Testicular ... ORPHA:251510
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... ORPHA:453533
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Hyposmia, Decreased circulating luteinizing hormone level, Decreased circulating fol... OMIM:308700
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormal spermatogenesis, Bifid scrotum, Abnormali... ORPHA:261529
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Impotence, Brea... ORPHA:2232
17Q21.31 Microduplication Syndrome
Delayed puberty, Short nose, Clinodactyly of the 5th finger, Sandal gap, Anteverted nares, Microc... ORPHA:217340
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc... ORPHA:398079
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Delayed puberty, Small pituitary gland, Short stature, Reduced subcutaneous adipose tissue, Limb ... OMIM:612079
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level OMIM:619009
Ane Syndrome
Delayed puberty, Decreased serum insulin-like growth factor 1, Decreased response to growth hormo... ORPHA:157954
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Osteoporosis, Female infertility, Primary ameno... OMIM:300604
Aarskog-Scott Syndrome
Delayed puberty, Short nose, Inguinal hernia, Anteverted nares, Testicular atrophy, Bilateral cry... OMIM:305400
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Hyperprolactinemia
Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:289548
Prader-Willi Syndrome
Small pituitary gland, Decreased circulating gonadotropin concentration, Hypogonadism, Small scro... ORPHA:739
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Short nose, Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentrat... OMIM:613038
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Narrow nasal base, Wide nose, Cleft ala nasi, Breast aplasia, Decreased testicular size, Eunuchoi... ORPHA:3044
Panhypophysitis
Central diabetes insipidus, Abnormal thalamic MRI signal intensity, Reduced circulating prolactin... ORPHA:95513
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidism... OMIM:616113
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Increased body weight, Hypogonadism, Hypothalamic luteinizing hormone-rele... ORPHA:398069
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Decreased ma... ORPHA:95512
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Pituitary dwarfism, Osteoporosis of ve... ORPHA:90695
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Tetralogy Of Fallot
Intrauterine growth retardation, Cryptorchidism, Abnormal nasal morphology, Proptosis ORPHA:3303
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Oligodacty... ORPHA:93323
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614839
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Osteopenia, Premature ovarian insufficiency, Neoplasm of the pancreas, Hypospadi... ORPHA:2959
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Partial Androgen Insensitivity Syndrome
Increased circulating antimullerian hormone concentration, Clitoral hypertrophy, Aplasia of the u... ORPHA:90797
Woodhouse-Sakati Syndrome
Delayed puberty, Osteopenia, Premature ovarian insufficiency, Decreased response to growth hormon... ORPHA:3464
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Infertility, Decreased libido, Testicular atrophy, Osteoporosis, Hypothyroi... ORPHA:465508
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... OMIM:615925
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Complete Androgen Insensitivity Syndrome
Delayed puberty, Blind vagina, Male infertility, Abnormal circulating follicle-stimulating hormon... ORPHA:99429
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98754
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... OMIM:278850
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98793
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Short nose, Central diabetes insipidus, Wide nose, Hypertelorism, Decreased circulati... OMIM:125700
Premature Ovarian Failure 22
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:620548
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177904
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Loss of subcutaneous adipose tissue in limbs, Proptosis, Osteoporosis, Cryptor... OMIM:615381
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177901
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Decreased serum testosterone concentration ORPHA:101006
Culler-Jones Syndrome
Hypotelorism, Diabetes insipidus, Anterior pituitary hypoplasia, Short stature, Hypogonadism, Hyp... OMIM:615849
Ziegler-Huang Syndrome
Anterior pituitary hypoplasia, Growth delay, Elevated circulating follicle stimulating hormone le... OMIM:620501
Weiss-Kruszka Syndrome
Short nose, Decreased response to growth hormone stimulation test, Prominent nasal tip, Cryptorch... ORPHA:502430
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Joint contracture of the 5th finger, Anteverted nares, Prominent nasal tip, Prop... ORPHA:352490
Intellectual Developmental Disorder, X-Linked 91
Short nose, Short foot, Obesity, Short 5th finger, Clinodactyly, Small hand OMIM:300577
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Osteomesopyknosis
Infertility OMIM:166450
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... ORPHA:1772
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short stature, Short nose, Primary microcephaly, Small for gestational age OMIM:245570
Sheehan Syndrome
Dyspareunia, Impotence, Decreased circulating cortisol level, Central adrenal insufficiency, Decr... ORPHA:91355
Isolated Growth Hormone Deficiency, Type Iv
Decreased response to growth hormone stimulation test, Impaired growth-hormone response to insuli... OMIM:618157
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Developmental And Epileptic Encephalopathy 73
Short nose, Narrow nasal bridge, Microcephaly, Failure to thrive, Hip dysplasia OMIM:618379
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneous adipose tissue, Loss of subcuta... OMIM:604367
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Filippi Syndrome
Postnatal growth retardation, Low hanging columella, Decreased body weight, Proptosis, Intrauteri... OMIM:272440
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Hypoplastic female external genitalia, Anteverted nares, Proptosis, Hypertelorism, Cr... OMIM:618577
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit... ORPHA:91351
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Pituitary dwarfism, Osteoporosis of ve... ORPHA:95494
Aromatase Deficiency
Osteopenia, Male infertility, Delayed epiphyseal ossification, Macroorchidism, postpubertal, Enla... ORPHA:91
Meningioma
Proptosis, Impotence, Decreased circulating cortisol level, Abnormal hypothalamus physiology, Foc... ORPHA:2495
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short stature, Short nose, Micrognathia, Anteverted nares ORPHA:2015
Lethal Osteosclerotic Bone Dysplasia
Short nose, Retrognathia, Anteverted nares, Mandibular aplasia, Depressed nasal ridge, Microcepha... ORPHA:1832
Donohue Syndrome
Postnatal growth retardation, Clitoral hypertrophy, Hyperinsulinemia, Severe failure to thrive, F... OMIM:246200
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Retrognathia, Macrocephaly, Obesity, Broad nasal tip, Failure to thrive in infancy OMIM:613670
Non-Distal Duplication 10Q
Short nose, Short stature, Convex nasal ridge, Cryptorchidism, Hypertelorism, Depressed nasal bridge ORPHA:1695
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Arthralgia of ... ORPHA:166002
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Pituitary dwarfism, Decreased thyroid-stimulating hormone level, Inappropriate antidiuretic hormo... ORPHA:226307
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased testicular size, Failure to thrive, Short stature, Hypogonadism, Decreased serum testos... OMIM:201100
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Short nose, Clinodactyly of the 5th finger, Abnormal metacarpal m... ORPHA:2370
Fg Syndrome Type 1
Hypospadias, Small pituitary gland, Inguinal hernia, Choanal atresia, Short stature, Slender buil... ORPHA:93932
Bardet-Biedl Syndrome 6
External genital hypoplasia, Hypospadias, Obesity, Vaginal atresia, Diabetes mellitus OMIM:605231
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Mccune-Albright Syndrome
Ovarian cyst, Monostotic fibrous dysplasia, Polyostotic fibrous dysplasia, Abnormal endocrine phy... ORPHA:562
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Abnormal mitral valve morphology, Micrognathia, Mesomelia, Brachyda... ORPHA:1277
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Abnormal circulating ... ORPHA:280356
Acromicric Dysplasia
Short nose, Abnormal femur morphology, Anteverted nares, Short metacarpal, Short palm, Severe sho... ORPHA:969
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Infertility, Osteoporosis, Female hypogonadism, Oligomenorr... ORPHA:397685
Pseudoachondroplasia
Short long bone, Flat acetabular roof, Increased laxity of ankles, Hypoplastic pelvis, Skeletal m... ORPHA:750
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Craniopharyngioma
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Postnatal growth retardati... ORPHA:54595
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adre... ORPHA:91347
Perlman Syndrome
Short nose, Hyperinsulinemia, Abnormal pancreas morphology, Inguinal hernia, Hypoplasia of penis,... ORPHA:2849
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Short nose, Decreased response to growth hormone stimulation test, Postnatal growth r... OMIM:614732
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Absent external genitalia, Urogenital... ORPHA:325124
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimulation test, Pituitary dwarfism, Anterior pituitary hyp... OMIM:173100
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Hypospadias, Anteverted nares, Depressed nasal ridge, Short stature ORPHA:1355
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... ORPHA:314478
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Postnatal growth retardation, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Short lon... OMIM:618728
Slc35A2-Cdg
Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Increased circulating thyrog... ORPHA:356961
47,Xyy Syndrome
Male infertility, Increased serum testosterone level, Hypospadias, Azoospermia, Oligozoospermia, ... ORPHA:8
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature thelarche, D... ORPHA:90795
Periventricular Nodular Heterotopia 7
Short nose, Anteverted nares, Proptosis, Failure to thrive, Contracture of the proximal interphal... OMIM:617201
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Progressive microcephaly, Short stature, Growth delay, Depressed nasal bridge ORPHA:438178
Pituitary Carcinoma
Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ... ORPHA:300385
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Short nasal septum, Epiphyseal stippling, Anosmia, Microcephaly, Short stature, Short... OMIM:302950
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor... OMIM:250460
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Anteverted nares, Proptosis, Short stature, Prominent nose, Bulbous nose OMIM:618492
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Small for gestational age, Anteverted nares, Prominent nasal tip, Proptosis, Sho... OMIM:615834
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyl... ORPHA:2928
Chromosome 14Q11-Q22 Deletion Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Short nose, Inguinal hernia, Ante... OMIM:613457
Myofibrillar Myopathy 10
Ankle flexion contracture, Sandal gap, Prolonged QTc interval, Percussion myotonia, Elbow flexion... OMIM:619040
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion contracture, Upper ... ORPHA:206549
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Bifid nasal tip, Thick nasal alae, Midline central nervous system ... ORPHA:1827
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Adenylosuccinate Lyase Deficiency
Microcephaly, Short nose, Anteverted nares ORPHA:46
Renal Hypodysplasia/Aplasia 1
Hypertelorism, Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Anterior pit... OMIM:618160
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Short s... ORPHA:247768
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Short nose, Proptosis, Bicornuate uterus, Omphalocele, Abnormali... ORPHA:2143
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Feingold Syndrome 2
Secondary microcephaly, Postnatal growth retardation, 2-3 toe syndactyly, Short middle phalanx of... OMIM:614326
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Small for gestational age, Hypoinsulinem... ORPHA:99886
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Abnormal circulating ceruloplasmin concentration, Tricuspid regurgitation, Cardi... OMIM:620306
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Reduced bone mineral densit... ORPHA:243
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Microcephaly, Camptodactyly of finger, Micrognathia, Short stature, Growth delay, Int... ORPHA:1495
Maxillonasal Dysplasia, Binder Type
Short nose, Short distal phalanx of finger, Dental malocclusion, Depressed nasal bridge, Short co... OMIM:155050
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Clitoral hypertrophy, Hyperinsulinemia, Postprandial hyperglycemia, Long penis, Fasting hypoglyce... OMIM:262190
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Diabetes insipidus, Hypoplasia of penis, Anterior pituitary hypoplasia, Anosmi... ORPHA:3157
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Diabetes insipidus, Anterior pituitary hyp... OMIM:615926
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short nose, Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Lo... OMIM:608612
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Dysmenorrhea, Abnormal uterin... ORPHA:3411
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Macrocephaly, Rhizomelia, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of ... OMIM:300863
Pierpont Syndrome
Short nose, Wide nose, Decreased body weight, Short stature, Failure to thrive, Broad nasal tip, ... OMIM:602342
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Hypospadias, Anteverted nares, Congenital hypothyroidism, Cryptorchidism, Obesity, Mi... OMIM:614613
Polyembryoma
Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy... ORPHA:180229
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... OMIM:201170
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism OMIM:240950
Acromicric Dysplasia
Anteverted nares, Short long bone, Short metacarpal, Short foot, Short palm, Short phalanx of fin... OMIM:102370
Robinow Syndrome
Short nose, External genital hypoplasia, Hypoplastic labia majora, Anteverted nares, Flared nostr... ORPHA:97360
Chromosome 6Q11-Q14 Deletion Syndrome
Short nose, Hypotelorism, Inguinal hernia, Bilateral cryptorchidism, Short stature, Prominent nas... OMIM:613544
Rhizomelic Dysplasia, Patterson-Lowry Type
Short nose, Genu valgum, Rhizomelia, Wide nose, Mandibular prognathia, Short metacarpal, Deformed... ORPHA:2831
Chromosome 3Q29 Duplication Syndrome
Short nose, Macrocephaly, Microcephaly, Obesity, Bulbous nose, Wide nasal bridge OMIM:611936
Distal Myopathy, Tateyama Type
Pes cavus, Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic... ORPHA:488650
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Infertil... OMIM:615962
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:619938
Pontocerebellar Hypoplasia Type 10
Growth delay, Proptosis, Wide nasal bridge, Underdeveloped nasal alae ORPHA:411493
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Pituitary h... ORPHA:231720
Chondrodysplasia With Joint Dislocations, Gpapp Type
Capitate-hamate fusion, Short nose, Genu valgum, Irregular epiphyses of the metacarpals, Hitchhik... OMIM:614078
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Proptosis, Choanal atresia, Camptodactyly, Coronal craniosynostosis,... OMIM:207410
Burn-Mckeown Syndrome
Short nose, Bilateral choanal atresia, Short stature, Prominent nasal bridge, Wide nasal bridge ORPHA:1200
Odontochondrodysplasia
Abnormal metaphysis morphology, Short nose, Square pelvis bone, Retrognathia, Delayed eruption of... ORPHA:166272
Silver-Russell Syndrome Due To 11P15 Microduplication
Postnatal growth retardation, Clinodactyly of the 5th finger, Relative macrocephaly, Severe intra... ORPHA:231144
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Proptosis, Graves dis... OMIM:275000
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Patent foramen ovale, Short ribs, Failure to th... OMIM:607143
Desbuquois Dysplasia 1
Sandal gap, Disproportionate short-limb short stature, Flat acetabular roof, Broad femoral neck, ... OMIM:251450
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Abnormal shoulder morphology, Abnormal metacarpal morphology, Aplasia/Hypop... ORPHA:1350
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing... OMIM:249710
Rhiny
Short nose, Anteverted nares OMIM:180360
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Clubbing, Tibial bowing, Short long bone, Absent pate... OMIM:601559
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Postnatal growth retardation, Short nose, Wide distal femoral metaphysis, Wide nose, Delayed epip... OMIM:613320
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose, Mandibular prognathia, Macrocephaly, Truncal obesity ORPHA:2429
Ovarian Dysgenesis 4
Decreased body weight, Short stature, Elevated circulating follicle stimulating hormone level, Pr... OMIM:616185
Ring Chromosome 8 Syndrome
Deviation of finger, Short nose, Anteverted nares ORPHA:1450
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Osteoporosis, Eunuchoid habitus, Elevat... OMIM:618187
Pituitary Hormone Deficiency, Combined, 3
Decreased response to growth hormone stimulation test, Pituitary dwarfism, Anterior hypopituitari... OMIM:221750
Hypochondroplasia
Macrocephaly, Disproportionate short-limb short stature, Flared metaphysis, Short long bone, Trid... OMIM:146000
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Cherubism
Bone cyst, Proptosis ORPHA:184
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Short foot OMIM:611263
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
H Syndrome
Delayed puberty, Recurrent pharyngitis, Azoospermia, Proptosis, Chronic rhinitis, Camptodactyly, ... ORPHA:168569
Prader-Willi Syndrome Due To Translocation
Short nose, Decreased response to growth hormone stimulation test, Underdeveloped nasolabial fold... ORPHA:177907
Peho-Like Syndrome
Progressive microcephaly, Short nose, Retrognathia, Tapered finger OMIM:617507
Hemochromatosis, Type 2A
Congestive heart failure, Azoospermia, Infertility, Cardiomyopathy, Arrhythmia, Amenorrhea, Dilat... OMIM:602390
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Chung-Jansen Syndrome
Short nose, Anteverted nares, Obesity, Deeply set eye, Cryptorchidism, Hypertelorism OMIM:617991
Clark-Baraitser Syndrome
Short nose, Sandal gap, Low hanging columella, Anteverted nares, Microcephaly, Obesity, Clinodact... OMIM:617752
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Hypospadias, Anteverted nares, Obesity, Umbilical hernia, Craniosynostosis, Cryptorch... ORPHA:171839
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Aplasia of the vagina, Increased circulating... OMIM:158330
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Narrow nasal bridge, Proptosis, Overhanging nasal tip, Short stature, Convex nasal ridge ORPHA:85172
Acrodysostosis
Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Coxa valga, Genu varum, Hypop... ORPHA:950
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:293978
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A... OMIM:620303
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Azoospermia, Ketotic hypoglycemia, Decreased circulating dehydroepiandrost... ORPHA:361
Macrocephaly-Intellectual Disability-Autism Syndrome
Short nose, Thyroid carcinoma, Hypertelorism, Depressed nasal bridge, Multiple lipomas, Penile fr... ORPHA:210548
Estrogen Resistance
Delayed puberty, Osteopenia, Increased circulating osteocalcin level, Hyperinsulinemia, Breast ap... OMIM:615363
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Short nose, Hypoplastic ischia, Microcephaly, Intrauterine growth retardation, Depre... OMIM:616910
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Abnormal femur morphology, Rhizomelia, Abnormal diaphysis morphology, ... ORPHA:1842
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Anteverted nares, Proptosis, Abnormality of the Leydig cells, Cryptorchidism, Campto... ORPHA:3063
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity, Hyperglycemia, Primary amenorrhea, Intrauterine growth r... OMIM:619737
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Rocker bottom foot, Short nose, Clinodactyly of the 5th finger, Anteverted nares, Microcephaly, D... OMIM:618506
Ovarian Dysgenesis 5
Short stature, Elevated circulating follicle stimulating hormone level, Elevated circulating lute... OMIM:617690
Mietens Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Short nose, Clinoda... ORPHA:2557
17P13.3 Microduplication Syndrome
Short nose, Inguinal hernia, Wide nose, Hypoplasia of penis, Hypertelorism ORPHA:217385
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Mandibular prognathia, Depressed nasal ridge, Hypoplasia... ORPHA:1248
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Impaired glucose tolerance, Increased pineal volume, Intrauterine growth re... ORPHA:769
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Small for gestational age, Flared metaphysis, Short ribs, Hypertrophic cardiomyopathy... OMIM:616897
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Prominent nose, Proptosis, Intrauterine growth retardation, Short stature OMIM:616171
Achondroplasia
Narrow greater sciatic notch, Short proximal phalanx of finger, Macrocephaly, Rhizomelia, Abnorma... ORPHA:15
Acrocephalopolydactyly
Short nose, Short long bone, Brachydactyly, Depressed nasal ridge ORPHA:221054
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Obesity, Vaginal atresia, Hypogonadism OMIM:615989
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Abnormal fallopian tube morphology, Inguinal hernia, Pancreatic lym... ORPHA:1655
Bardet-Biedl Syndrome 1
Truncal obesity, Abnormality of the ovary, Nephrogenic diabetes insipidus, Decreased testicular s... OMIM:209900
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Myotonia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Prox... ORPHA:98855
Autosomal Recessive Distal Osteolysis Syndrome
Short stature, Broad nasal tip, Proptosis, Osteolysis ORPHA:2776
Teebi Hypertelorism Syndrome 2
Short nose, Hypospadias, Proptosis, Broad nasal tip, Hypertelorism, Depressed nasal bridge OMIM:619736
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Ambiguous genitalia, Infertility, Oligozoospermi... ORPHA:786
Mitochondrial Myopathy And Sideroblastic Anemia
Microcephaly, Short nose, Micrognathia, Delayed puberty ORPHA:2598
Prolactinoma
Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,... ORPHA:2965
Sponastrime Dysplasia
Disproportionate short-limb short stature, Short long bone, Relative macrocephaly, Aplasia of the... ORPHA:93357
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... OMIM:201750
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Macrocephaly, Short stature, Hypoplasia of the zygomatic bone, Depressed nasal bridge ORPHA:2835
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad metatarsal, Intrauterine growth retardation, Cone-shaped epiphysis, Bilat... ORPHA:439822
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Inguinal hernia, Anterior pituitary hypoplasia, Elbow flexion contracture, Choanal a... OMIM:151050
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Increased serum testosterone level, Decreased circulating ACTH concentration, Pigment... OMIM:610489
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Decreased body weight, Proptosis, Short stature, Failure to thrive, Flexion contracture, Intraute... OMIM:618346
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Deviation of the 5th toe, Short nose, Delayed puberty, Wide nose, Severe postnatal growth retarda... ORPHA:391408
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Anterior pituitary hypoplasia, Pituitary hypothyroidism, Hypertelorism, Micropenis OMIM:619983
Verheij Syndrome
Short nose, Retrognathia, Anteverted nares, Intrauterine growth retardation, Microcephaly, Short ... OMIM:615583
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Proptosis, Bicornuate uterus, Decreased skull ossification, Omph... OMIM:263210
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Postnatal growth retardation, Acromicria, Relative macrocephaly, Short foot, Obesity, Micrognathi... ORPHA:254525
Absent Eyebrows And Eyelashes With Mental Retardation
Microcephaly, Short nose, Convex nasal ridge OMIM:200130
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Hyperglycemia, Diabetic ketoacidosis, Diabetes mellitus, In... OMIM:613370
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea, Increase... OMIM:110100
Non-Syndromic Bicoronal Craniosynostosis
Hypertelorism, Proptosis ORPHA:35099
Chromosome 16Q22 Deletion Syndrome
Postnatal growth retardation, Wide anterior fontanel, Microcephaly, Failure to thrive, Micrognath... OMIM:614541
Meckel Syndrome 12
Anteverted nares, Vaginal atresia, Intrauterine growth retardation, Arthrogryposis multiplex cong... OMIM:616258
Cutis Laxa, Autosomal Recessive, Type Iie
Inguinal hernia, Craniosynostosis, Proptosis, Short stature, Broad nasal tip, Convex nasal ridge,... OMIM:619451
Cog2-Cdg
Small pituitary gland ORPHA:435934
Mandibuloacral Dysplasia With Type A Lipodystrophy
Narrow nasal ridge, Proptosis, Impaired glucose tolerance, Hyperinsulinemia, Loss of subcutaneous... OMIM:248370
Pallister-Hall-Like Syndrome
Short nose, Macrocephaly, Postaxial hand polydactyly, Microcephaly, Short stature, Micrognathia, ... OMIM:241800
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Metaphyseal Anadysplasia 2
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... OMIM:613073
Difference Of Sex Development-Intellectual Disability Syndrome
Short nose, Reduced bone mineral density, Hypoplasia of penis, Hypogonadism, Small scrotum, Deepl... ORPHA:2983
Insulin-Resistance Syndrome Type B
Increased body weight, Fasting hyperinsulinemia, Postprandial hyperglycemia, Hyperinsulinemia, In... ORPHA:2298
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Diabetes insipidus, Pituitary hypothyroidism,... ORPHA:91350
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Short nose, Osteopenia, Hypospadias, Inguinal hernia, Craniosyno... ORPHA:2409
Fibrochondrogenesis 2
Short nose, Metaphyseal cupping, Hypoplastic pubic bone, Anteverted nares, Short long bone, Hypop... OMIM:614524
19P13.12 Microdeletion Syndrome
Hypospadias, Narrow nasal bridge, Anteverted nares, Proptosis, Arthrogryposis multiplex congenita... ORPHA:254346
Microphthalmia With Limb Anomalies
Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypo... OMIM:206920
Microcephaly 5, Primary, Autosomal Recessive
Short stature, Proptosis OMIM:608716
Deeah Syndrome
Short nose, Decreased response to growth hormone stimulation test, Neonatal hypoglycemia, Promine... OMIM:619004
Camptodactyly Syndrome, Guadalajara Type 1
Short nose, Dental malocclusion, Anteverted nares, Mandibular prognathia, Microcephaly, Camptodac... ORPHA:1327
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Abnormality... ORPHA:1501
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Foxp1 Syndrome
Short nose, Retrognathia, Macrocephaly, Mandibular prognathia, Prominent fingertip pads, Failure ... ORPHA:391372
Emery-Dreifuss Muscular Dystrophy
Myotonia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Prox... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Myotonia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Prox... ORPHA:98853
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Left ventricular systolic dysfunction, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Sc... ORPHA:353
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Postnatal growth retardation, Short nose, Slender nose, Microcephaly, Micrognathia, Intrauterine ... OMIM:615419
Autosomal Dominant Omodysplasia
Short nose, Rhizomelia, Hypoplasia of penis, Bifid scrotum, Ambiguous genitalia, Cryptorchidism, ... ORPHA:93328
Short Syndrome
Lipoatrophy, Glucose intolerance, Inguinal hernia, Small for gestational age, Reduced subcutaneou... OMIM:269880
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Secondary microcephaly, Short nose, Short stature, Primary microcephaly, Small for gestational age ORPHA:289266
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Secondary microcephaly, Postnatal growth retardation, Short stature, Small for gestational age, C... ORPHA:3369
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Disproportionate short stature, Genu valgum, Small epiphyses, Mandibular... OMIM:618363
14Q11.2 Microdeletion Syndrome
Short nose, Toe clinodactyly, Micrognathia, Toe syndactyly, Depressed nasal bridge ORPHA:261120
Craniodigital-Intellectual Disability Syndrome
Short nose, Spina bifida occulta, Narrow nasal bridge, Finger syndactyly, Short stature, Microgna... ORPHA:1514
Joubert Syndrome 38
Decreased response to growth hormone stimulation test, Small pituitary gland, Short stature, Decr... OMIM:619476
Vitamin K Antagonist Embryofetopathy
Short nose, Epiphyseal stippling, Anteverted nares, Proptosis, Choanal atresia, Intrauterine grow... ORPHA:1914
Opsismodysplasia
Abnormal metaphysis morphology, Short nose, Macrocephaly, Hypoplastic pubic bone, Abnormal epiphy... ORPHA:2746
Septooptic Dysplasia
Short stature, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... OMIM:182230
Achondrogenesis Type 1B
Short nose, Macrocephaly, Anteverted nares, Micrognathia, Severe short stature, Disproportionate ... ORPHA:93298
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter, Chronic rhinitis, Female infertility OMIM:617577
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Small pituitary gland, Disproportionate short-limb short stature, Flexion contractur... OMIM:619479
46,Xx Sex Reversal 5
Ambiguous genitalia, Aplasia of the left hemidiaphragm, Urogenital sinus anomaly, Increased serum... OMIM:618901
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose, Cachexia, Postaxial hand polydactyly, Short stature, Microretrognathia ORPHA:1389
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bones, Abnor... ORPHA:2632
Premature Ovarian Failure 17
Decreased circulating inhibin B concentration, Premature ovarian insufficiency, Decreased cirrcul... OMIM:619146
X-Linked Emery-Dreifuss Muscular Dystrophy
Myotonia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Prox... ORPHA:98863
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Loss of gluteal subcutaneous adipose tissue, Increased adipose ... ORPHA:435660
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Severe failure to thrive, Hyperglycemia, Transient neonatal diab... OMIM:601410
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Odontochondrodysplasia 1
Mesomelic short stature, Macrocephaly, Irregular epiphyses, Small epiphyses, Cone-shaped epiphyse... OMIM:184260
Bent Bone Dysplasia Syndrome 2
Ulnar bowing, Bowed humerus, Short tibia, Hypoplastic iliac wing, Short ribs, Femoral bowing, Hyp... OMIM:620076
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Microcephaly, Shortening of all distal phalanges of the fingers, Growth delay, Broad ... OMIM:615716
Trigonocephaly 1
Short nose, Hypotelorism, Long penis, Omphalocele, Craniosynostosis, Wide nasal bridge OMIM:190440
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Elbow flexion contracture, Hip dysplasia, Ele... OMIM:616809
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Hypoplasia of penis, Bifid scrotum, Anosmia, Hypertelori... ORPHA:1295
Tetralogy Of Fallot
Proptosis OMIM:187500
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Arthralgia of the hip, Delayed epiphyseal ossification, Short long bone, Genu varum,... ORPHA:93308
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short nose, Anteverted nares, Short long bone, Coarse metaphyseal trabecularization, Metaphyseal ... OMIM:618961
Craniofacial-Deafness-Hand Syndrome
Short nose, Depressed nasal ridge, Hypoplasia of the maxilla, Camptodactyly of finger, Depressed ... ORPHA:1529
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Short nose, Decreased response to growth hormone stimulation tes... ORPHA:363528
Intellectual Developmental Disorder, X-Linked 30
Short nose, Anteverted nares, Prominent fingertip pads, Microcephaly, Short stature, Prominent na... OMIM:300558
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... ORPHA:1916
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Anteverted nares, Camptodactyly, Short stature, Growth delay, Micrognathia, Brachydac... OMIM:613604
Achondrogenesis Type 1A
Short nose, Macrocephaly, Anteverted nares, Short palm, Micrognathia, Severe short stature, Short... ORPHA:93299
Premature Ovarian Failure 16
Decreased serum estradiol, Reduced antral follicle count, Premature ovarian insufficiency, Elevat... OMIM:618723
Ruvalcaba Syndrome
Delayed puberty, Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Abnorma... ORPHA:3121
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Short statu... ORPHA:67045
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Hypophosphatasia, Childhood
Short stature, Craniosynostosis, Proptosis OMIM:241510
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short nose, Anteverted nares, Short distal phalanx of toe, Bilateral triphalangeal thumbs, Microc... OMIM:619356
Teebi Hypertelorism Syndrome 1
Short nose, Anteverted nares, Bicornuate uterus, Omphalocele, Coronal craniosynostosis, Short sta... OMIM:145420
Bainbridge-Ropers Syndrome
Short nose, Contracture of the proximal interphalangeal joint of the 4th finger, Anteverted nares... OMIM:615485
Severe X-Linked Intellectual Disability, Gustavson Type
Rocker bottom foot, Short nose, Triphalangeal thumb, Severe postnatal growth retardation, Calcane... ORPHA:3078
Chromosome 19Q13.11 Deletion Syndrome, Distal
Postnatal growth retardation, Short nose, Retrognathia, Clinodactyly of the 5th finger, Anteverte... OMIM:613026
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Pes cavus, Distal lower limb muscle weakness, Handgrip myotonia, Abnormal foot morphology, Split ... ORPHA:324442
Pontocerebellar Hypoplasia, Type 3
Short stature, Decreased body weight, Proptosis, Depressed nasal bridge OMIM:608027
Apert Syndrome
Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Proptosis, Choanal atresia, Rhizome... OMIM:101200
Kleeblattschaedel
Craniosynostosis, Proptosis OMIM:148800
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, Short long bone, Broad thumb, Hip dislocation, Fibular hypoplasia, Tar... ORPHA:1106
Potocki-Shaffer Syndrome
Short nose, 2-5 finger cutaneous syndactyly, Brachydactyly, Wide nasal bridge, Underdeveloped nas... OMIM:601224
14Q22Q23 Microdeletion Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hypoplasia, Proptosis, Abnormality of ... ORPHA:264200
Microform Holoprosencephaly
Short nose, Cyclopia, Maternal diabetes, Hypotelorism, Narrow nasal bridge, Hypoplasia of penis, ... ORPHA:280200
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Oligomenorrhea, Lipodystrophy, Decreased ad... ORPHA:79085
Miller-Dieker Syndrome
Growth delay, Short nose, Anteverted nares, Clinodactyly of the 5th finger ORPHA:531
Optic Pathway Glioma
Precocious puberty, Proptosis, Growth delay ORPHA:2086
ERI1-related disease
Clinodactyly of the 5th finger, Dislocated radial head, Oligodactyly, Decreased body weight, Tric... OMIM:608739
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Clitoral hypert... OMIM:202010
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hypertelorism, Small pituitary gland OMIM:614195
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Lipodystrophy, Familial Partial, Type 1
Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the neck, Loss of su... OMIM:608600
Acrofrontofacionasal Dysostosis 2
Hypospadias, Wide nose, Bifid scrotum, Proptosis, Short stature, Shawl scrotum, Hypertelorism OMIM:239710
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Proptosis, Precocious puberty, Weight loss, Metrorrha... ORPHA:370348
Laron Syndrome
Short long bone, Delayed menarche, Limb undergrowth OMIM:262500
Codas Syndrome
Short nose, Midline defect of the nose, Delayed eruption of teeth, Anteverted nares, Abnormal den... ORPHA:1458
Tetrasomy 5P
Postnatal growth retardation, Short nose, Macrocephaly, Clinodactyly of the 5th finger, Short hal... ORPHA:3309
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Omodysplasia 1
Short nose, Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular dia... OMIM:258315
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Increased serum testosterone level, Inguinal hernia, Congenital adrenal hyp... ORPHA:96181
Robinow Syndrome, Autosomal Recessive 2
Short nose, Sandal gap, Anteverted nares, Prominent fingertip pads, Relative macrocephaly, Campto... OMIM:618529
Smith-Kingsmore Syndrome
Large for gestational age, Short proximal phalanx of finger, Macrocephaly, Short nose, Rhizomelia... OMIM:616638
Ogden Syndrome
Postnatal growth retardation, Inguinal hernia, Proptosis, Enlarged naris, Cryptorchidism, Underde... ORPHA:276432
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Proptosis, Failure to thrive, Flexion contracture, Moderately short stature ORPHA:157965
Achondrogenesis
Short nose, Macrocephaly, Anteverted nares, Micrognathia, Severe short stature ORPHA:932
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... OMIM:258860
Caffey Disease
Calvarial hyperostosis, Proptosis, Periosteal thickening of long tubular bones, Cortical irregula... ORPHA:1310
Microcephaly-Capillary Malformation Syndrome
Short nose, Small for gestational age, Wide nose, Progressive microcephaly, Hypoplasia of the max... OMIM:614261
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Rhizomelia, Hypoplastic iliac wing, Abnormality of the calcaneus, Depressed nasal rid... ORPHA:163966
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Inguinal hernia, Omphalocele, Camptodactyly of toe, Hypertelorism, Hyperglycemia, Um... OMIM:175700
Microcephaly-Micromelia Syndrome
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... OMIM:251230
Ritscher-Schinzel Syndrome 4
Hypotelorism, Proptosis, Short stature, Hypertelorism, Deeply set eye, Cryptorchidism, Micropenis... OMIM:619435
Orofaciodigital Syndrome Type 2
Atrioventricular canal defect, Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the... ORPHA:2751
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Hypoplasia of the uterus, Lacrimal gland aplasia, Decreased circ... ORPHA:572333
Multiple Synostoses Syndrome 3
Proptosis OMIM:612961
Osteoglophonic Dysplasia
Osteopenia, Short nose, Rhizomelia, Hypospadias, Inguinal hernia, Anteverted nares, Nasal congest... OMIM:166250
Robinow Syndrome, Autosomal Dominant 2
Short nose, Calvarial osteosclerosis, Anteverted nares, Proptosis, Camptodactyly, Short stature, ... OMIM:616331
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca... ORPHA:457395
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Absence of labia majora, Short columella, Hypospadias, Anteverted nares, Hypoplastic labia minora... ORPHA:495875
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Facial muscle hypertrophy, Percussion myotonia, Myotonia of the upper limb, Co... ORPHA:684
20Q11.2 Microduplication Syndrome
Short nose, Abnormal nasal bridge morphology, Inguinal hernia, Anteverted nares, Bifid scrotum, S... ORPHA:363659
Distal Duplication 18Q
Short nose, Abnormal female external genitalia morphology, Hypoplasia of penis, Anteverted nares,... ORPHA:1716
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short nose, Anteverted nares, Short stature, Cryptorchidism, Hypertelorism ORPHA:2701
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Postnatal growth retardation, Rhizomelia, Hypospadias, Anteverted nares, Proptosis, C... OMIM:611209
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Macroglossia ORPHA:1423
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short ribs, Postaxial... OMIM:263520
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Hypertelorism, Proptosis, Choanal atresia OMIM:612247
Diastrophic Dysplasia
Neonatal short-limb short stature, Short finger, Genu valgum, Irregular epiphyses, Disproportiona... OMIM:222600
Temtamy Preaxial Brachydactyly Syndrome
Radial deviation of finger, Clinodactyly of the 2nd finger, Complete duplication of the middle ph... ORPHA:363417
Desbuquois Dysplasia 2
Short long bone, Flat acetabular roof, Short metacarpal, Relative macrocephaly, Broad thumb, Micr... OMIM:615777
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Cryptorchidism, Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the ... ORPHA:3301
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Short stature, Failure to thrive, Female infertility, Mitochondr... OMIM:619518
Schneckenbecken Dysplasia
Short nose, Macrocephaly, Disproportionate short-limb short stature, Snail-like ilia, Short long ... OMIM:269250
Edinburgh Malformation Syndrome
Short nose, Anteverted nares, Choanal atresia, Slender finger, Failure to thrive, Long fingers, M... ORPHA:1895
9q subtelomeric deletion syndrome
Microcephaly, Short nose, Anteverted nares DECIPHER:52
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Long nose, Short nose, Low hanging columella, Delayed eruption of teeth, Antever... OMIM:615866
Zebra Body Myopathy
Muscle fiber splitting, Handgrip myotonia, Torticollis, Rimmed vacuoles, Autophagic vacuoles, EMG... ORPHA:97240
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia, Metacarpal osteolysis, Osteopenia, Carpal osteolysis, Proptosis,... OMIM:166300
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Renal And Mullerian Duct Hypoplasia
Short nose, Severe postnatal growth retardation, Aplasia of the uterus, Anteriorly displaced uret... OMIM:266810
Premature Aging Syndrome, Penttinen Type
Elevated circulating thyroid-stimulating hormone concentration, Short nose, Lipoatrophy, Hypotelo... OMIM:601812
Fetal Hydantoin Syndrome
Short nose, Bifid scrotum, Depressed nasal ridge, Cryptorchidism, Short stature, Intrauterine gro... ORPHA:1912
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... ORPHA:96334
Distal Deletion 9P
Short nose, Hypospadias, Proptosis, Hypertelorism, Hernia, Wide nasal bridge, Hypoplastic labia m... ORPHA:1642
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Metacarpal osteolysis, Carpal osteolysis, Cachexia, Proptosis, Camptodactyly of finger, Wide nasa... ORPHA:2774
Steinert Myotonic Dystrophy
Abnormality of thyroid physiology, Hyperinsulinemia, Decreased response to growth hormone stimula... ORPHA:273
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Short nose, Microcephaly, Camptodactyly of finger, Micrognathia, Growth delay, Prominent nasal br... ORPHA:2083
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short nose, Macrocephaly, Spina bifida occulta, Slender long bone, Anteverted nares, Short stature ORPHA:1185
Boomerang Dysplasia
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd... ORPHA:1263
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Hypospadias, Multiple joint contractures, Anterior pituitary hypoplasia, Short... ORPHA:464306
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Short stature,... ORPHA:3130
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Baraitser-Winter Syndrome 1
Postnatal growth retardation, Short nose, Retrognathia, Anteverted nares, Duplication of phalanx ... OMIM:243310
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Encephalopathy Due To Sulfite Oxidase Deficiency
Microcephaly, Short nose ORPHA:833
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular... OMIM:617102
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Increased intramuscular fat, Loss of truncal subcutaneous adipose tissue, Loss ... OMIM:151660
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... OMIM:620663
Johanson-Blizzard Syndrome
Abnormal nostril morphology, Short nose, Abnormality of the female genitalia, Hypospadias, Abnorm... ORPHA:2315
Intellectual Developmental Disorder, X-Linked 21
Short nose, Hypertelorism, Macroorchidism OMIM:300143
Toluene Embryopathy
Short nose, Biparietal narrowing, Microcephaly, Short stature, Micrognathia, Hypoplasia of the zy... ORPHA:1920
Desbuquois Syndrome
Disproportionate short-limb short stature, Anteverted nares, Proptosis, Camptodactyly of finger, ... ORPHA:1425
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Hypoplastic iliac wing, Tibial bowing, Microcephaly, Short distal phalanx of finger... OMIM:210720
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap... OMIM:135750
Rhizomelic Limb Shortening With Dysmorphic Features
Proptosis, Obesity, Rhizomelia, Wide nasal bridge OMIM:618821
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Severe postnatal growth retardation, Aplasia of the uterus, Uterus didelphys,... ORPHA:2237
Chromosome 5P13 Duplication Syndrome
Hypotelorism, Low hanging columella, Proptosis, Hypertelorism, Craniosynostosis, Bulbous nose, Wi... OMIM:613174
Autosomal Recessive Omodysplasia
Short nose, Rhizomelia, Anteverted nares, Cryptorchidism, Short stature, Craniosynostosis, Hernia... ORPHA:93329
Microcephaly 20, Primary, Autosomal Recessive
Intrauterine growth retardation, Hypoplasia of the uterus, Vaginal atresia, Short stature OMIM:617914
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short nose, Abnormal femoral neck/head morphology, Wide anterior fontanel, Anteverted nares, Flat... ORPHA:163649
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Abnormal metacarpal morphology, Abnormal hip bone morphology, Bow... ORPHA:2631
Craniosynostosis, Herrmann-Opitz Type
Short nose, Finger syndactyly, Split hand, Short stature, Micrognathia, Brachydactyly, Intrauteri... ORPHA:2145
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Atelosteogenesis Type Ii
Sandal gap, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rhizomelia, E... ORPHA:56304
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Anteverted nares, Bifid scrotum, Choanal atresia, Proptosis, Prominent scrotal raphe, Umbilical h... ORPHA:1555
Linear Skin Defects With Multiple Congenital Anomalies 2
Microcephaly, Short nose, Sandal gap, Short stature OMIM:300887
14Q24.1Q24.3 Microdeletion Syndrome
Short nose, Cryptorchidism, Prominent nasal bridge, Hypertelorism, Wide nasal bridge ORPHA:401935
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Atelosteogenesis, Type Ii
Sandal gap, Bifid humerus, Hitchhiker thumb, Short greater sciatic notch, Flat acetabular roof, A... OMIM:256050
Isolated Exencephaly
Maternal diabetes, Anterior pituitary hypoplasia, Proptosis, Posterior pituitary agenesis, Depres... ORPHA:563612
Microphthalmia, Syndromic 3
Postnatal growth retardation, Hypospadias, Anterior pituitary hypoplasia, Hypothalamic hamartoma,... OMIM:206900
8P23.1 Microdeletion Syndrome
Short nose, Proximal placement of thumb, Biparietal narrowing, Broad thumb, Microcephaly, Obesity... ORPHA:251071
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Genu valgum, Monkey wrench femoral neck, Clinodactyly of the 2nd finger, Patent foramen ovale, 2-... OMIM:618870
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Postnatal growth retardation, Abnormal bone ossification, Generalized bone demineralization, Hype... ORPHA:73230
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs, Decrea... ORPHA:435651
Manitoba Oculotrichoanal Syndrome
Bifid nasal tip, Omphalocele, Broad nasal tip, Vaginal atresia, Hypertelorism OMIM:248450
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Congestive heart failure, Crumpled long bones, Tibial bowing, Abnormal p... OMIM:166210
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of ... OMIM:618618
Mesomelic Dysplasia, Nievergelt Type
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Clinodactyly of the 5th... ORPHA:2633
Hyperthyroidism, Nonautoimmune
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... OMIM:609152
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Low hanging columella, Proptosis, Choanal atresia, Camptodactyly, Hypothyroidism, Hashimoto thyro... OMIM:613385
Femoral-Facial Syndrome
Short nose, Maternal diabetes, Inguinal hernia, Long penis, Short stature, Cryptorchidism ORPHA:1988
Neu-Laxova Syndrome
Rickets, Osteopenia, External genital hypoplasia, Proptosis, Depressed nasal ridge, Osteoporosis,... ORPHA:2671
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Flexion contracture of toe, Azoospermia, J... OMIM:602782
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Postnatal growth retardation, Short first metatarsal, Ulnar bowing, Epiph... OMIM:619135
Pycnodysostosis
Decreased response to growth hormone stimulation test, Rhizomelia, Disproportionate short-limb sh... ORPHA:763
Pontocerebellar Hypoplasia, Type 10
Short nose, Low hanging columella, Proptosis, Cryptorchidism, Growth delay, Bulbous nose, Wide na... OMIM:615803
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short nose, Arthrogryposis-like hand anomaly, Camptodactyly, Cryptorchidism, Short stature, Hyper... ORPHA:369891
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Short nose, Proptosis, Bicornuate uterus, Omphalocele, Broad nas... OMIM:222448
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Convex nasal ridge, Proptosis, Hypospadias ORPHA:2522
Arthrogryposis, Distal, Type 2A
Postnatal growth retardation, Short nose, Flexion contracture of toe, Inguinal hernia, Small for ... OMIM:193700
Tyshchenko Syndrome
Proptosis, Short stature, Intrauterine growth retardation, Cryptorchidism, Supernumerary nipple OMIM:615102
Acrofacial Dysostosis, Catania Type
Short nose, Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Microcephaly... ORPHA:1786
C Syndrome
Short nose, Radial deviation of finger, Dislocated radial head, Anteverted nares, Postaxial hand ... OMIM:211750
Beta-Mercaptolactate Cysteine Disulfiduria
Genu valgum, Sandal gap, Micromelia, Arachnodactyly, Obesity, Atrial septal defect ORPHA:1035
Smith-Magenis Syndrome
Delayed puberty, Short nose, Clinodactyly of the 5th finger, Anteverted nares, Mandibular prognat... ORPHA:819
20Q13.33 Microdeletion Syndrome
Hypospadias, Decreased scrotal rugation, Proptosis, Growth delay, Hypertelorism, Failure to thriv... ORPHA:261311
Frontoocular Syndrome
Coronal craniosynostosis, Prominent nasal bridge, Proptosis, Hypotelorism OMIM:605321
Myopathy, X-Linked, With Excessive Autophagy
Muscle fiber necrosis, Elevated circulating creatine kinase concentration, Skeletal muscle autoph... OMIM:310440
Distal Deletion 17Q
Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal hip bone morphology, Aplasia/... ORPHA:1597
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short nose, Bilateral choanal atresia, Anteverted nares, Choanal atresia, Bilateral cryptorchidis... OMIM:619859
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal thumb morphology, Tarsal synostosis, Abnormal tibia morphology, Abnormal hip bone morpho... ORPHA:2639
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Short nose, Hypospadias, Anteverted nares, Omphalocele, Hypertelorism, Prominent nose, Deeply set... OMIM:618316
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Anteverted nares, Long hallux, Obesity, Tapered finger OMIM:619854
Developmental And Epileptic Encephalopathy 75
Short nose, Anteverted nares, Proptosis, Hypertelorism, Wide nasal bridge OMIM:618437
Non-Distal Duplication 13Q
Hernia, Short nose, Cryptorchidism, Hypotelorism ORPHA:1702
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short nose, Carpal bone hypoplasia, Small epiphyses, Femoral bowing, Short metacarpal, Short four... OMIM:616723
Marshall-Smith Syndrome
Short nose, Reduced bone mineral density, Anteverted nares, Proptosis, Choanal atresia, Failure t... ORPHA:561
Al-Raqad Syndrome
Microcephaly, Brachydactyly, Short nose, Sandal gap OMIM:616459
Myotonic Dystrophy 2
Handgrip myotonia, Right bundle branch block, Oligozoospermia, Elevated circulating creatine kina... OMIM:602668
Crouzon Syndrome
Deviated nasal septum, Lambdoidal craniosynostosis, Proptosis, Shallow orbits, Coronal craniosyno... OMIM:123500
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Short nose, Generalized lipodystrophy, Osteolytic defects of the distal phalange... ORPHA:90154
Fetal Trimethadione Syndrome
Short nose, Microcephaly, Micrognathia, Intrauterine growth retardation, Depressed nasal bridge ORPHA:1913
Schwartz-Jampel Syndrome, Type 1
Flexion contracture of toe, Wrist flexion contracture, Quadriceps muscle weakness, Anterior bowin... OMIM:255800
Hypomandibular Faciocranial Dysostosis
Short nose, Anteverted nares, Proptosis, Choanal stenosis, Craniosynostosis, Abnormal morphology ... ORPHA:1790
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short nose, Fibular hypoplasia, Clinodactyly of the 5th finger, Rhi... OMIM:228520
Trisomy 12P
Short nose, Proptosis, Short stature, Hypertelorism, Supernumerary nipple, Wide nasal bridge ORPHA:1699
Leukodystrophy, Hypomyelinating, 10
Secondary microcephaly, Short nose, Anteverted nares, Arachnodactyly, Failure to thrive, Bulbous ... OMIM:616420
Even-Plus Syndrome
Short nose, Bifid nasal tip, Depressed nasal ridge, Epiphyseal dysplasia, Severe short stature, D... OMIM:616854
Cutis Laxa, Autosomal Recessive, Type Iia
Short nose, Wide anterior fontanel, Anteverted nares, Congenital hip dislocation, Microcephaly, F... OMIM:219200
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Hypoplastic pubic bone, Short ribs, Short long bone, Hypoplastic ilia, Micro... ORPHA:1865
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Short nose, Narrow nasal bridge, Metacarpophalangeal joint contracture, Microcephaly, Failure to ... ORPHA:544503
Acrocapitofemoral Dysplasia
Flared iliac wing, Micromelia, Abnormal femoral neck morphology, Short palm, Cone-shaped metacarp... ORPHA:63446
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Iliac crest serr... ORPHA:239
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Short nose, Macrocephaly, Clinodactyly of the 5th finger, Sandal gap, Obesity, Bulbous nose, Tape... OMIM:618430
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Short nose, Hammertoe, Microcephaly, Failure to thrive, Micrognathia, Short stature, Depressed na... OMIM:619833
Frasier Syndrome
Ambiguous genitalia, male, Gonadoblastoma, Hypergonadotropic hypogonadism, Male pseudohermaphrodi... ORPHA:347
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Genu valgum, Postaxial polydactyly, Limb undergrowth, Complete atr... OMIM:619142
Hypochondroplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Bowing of the long bones, Abnormal pel... ORPHA:429
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Increased body weight, Pituitary growth hormo... ORPHA:1359
Diamond-Blackfan Anemia 8
Growth delay, Short nose, Wide nasal bridge, Short stature OMIM:612563
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Thyroid hypoplasia, Unicornuate uterus, Decreased response to growth hormo... OMIM:619503
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Decreased serum leptin, Osteolytic defects of the distal phalanges of the hand, Prop... OMIM:614008
Acromesomelic Dysplasia 4
Short finger, Broad finger, Genu valgum, Rhizomelia, Short metatarsal, Sandal gap, Ulnar bowing, ... OMIM:619636
Mody
Large for gestational age, Neonatal hypoglycemia, Glucose intolerance, Hypoinsulinemia, Pancreati... ORPHA:552
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Increased circulating free T3, Craniosynostosis, Thyrotox... ORPHA:525731
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypoparathyroidism, Proptosis, Choanal atresia, Hip contracture, Severe short stature... OMIM:156400
Pontocerebellar Hypoplasia, Type 2E
Secondary microcephaly, Short nose, Wide nose, Progressive microcephaly, Microcephaly, Failure to... OMIM:615851
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Keppen-Lubinsky Syndrome
Postnatal growth retardation, Loss of facial adipose tissue, Narrow nasal bridge, Congenital gene... ORPHA:435628
Nabais Sa-De Vries Syndrome, Type 1
Short nose, Clinodactyly of the 5th finger, Prominent nasal bridge, Bulbous nose, Primary microce... OMIM:618828
Malan Syndrome
Short nose, Retrognathia, Macrocephaly, Advanced eruption of teeth, Mandibular prognathia, Long f... OMIM:614753
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Delayed puberty, Short nose, Deeply set eye, Cryptorchidism ORPHA:496790
Meacham Syndrome
Hydrometrocolpos, Congenital diaphragmatic hernia, Abnormal fallopian tube morphology, Hypoplasia... ORPHA:3097
16P12.1P12.3 Triplication Syndrome
Short nose, Retrognathia, 2-3 toe syndactyly, Prominent fingertip pads, Failure to thrive, Brachy... ORPHA:485405
Opsismodysplasia
Short nose, Macrocephaly, Rhizomelia, Disproportionate short-limb short stature, Metaphyseal cupp... OMIM:258480
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabulum morphology, Epiphyseal d... ORPHA:79106
Chitayat Syndrome
Anteverted nares, Proptosis, Short stature, Hypertelorism, Depressed nasal bridge, Short columella OMIM:617180
Fg Syndrome 5
Short nose, Anteverted nares, Hypospadias, Depressed nasal bridge OMIM:300581
Hydranencephaly
Postnatal growth retardation, Hypotelorism, Dysgenesis of the thalamus, Intrauterine growth retar... ORPHA:2177
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes, Dumbbell-... ORPHA:1836
Acrocardiofacial Syndrome
Hypospadias, Hypoplasia of penis, Proptosis, Camptodactyly of finger, Hypertelorism, Hyperthyroid... ORPHA:2008
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Bifid scrotum, Decreased circulating dehydroepiandrosterone-sul... OMIM:250790
Stickler Syndrome Type 1
Abnormal vertebral epiphysis morphology, Short nose, Abnormal epiphysis morphology, Hypoplasia of... ORPHA:90653
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Abnormality of the lower limb, Camptod... OMIM:300244
Mesomelia-Synostoses Syndrome
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Clinodactyl... ORPHA:2496
Ohdo Syndrome
Short nose, Anteverted nares, Short stature, Small scrotum, Cryptorchidism, Wide nasal bridge, De... OMIM:249620
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ambiguous genitalia, Proptosis, Depressed nasal bridge, Omphalocele OMIM:617895
Holoprosencephaly 9
Short nose, Decreased response to growth hormone stimulation test, Single naris, Anterior pituita... OMIM:610829
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Long nose, Short nose, Hypospadias, Anteverted nares, Imperforate hymen, Hematocolpos, Cryptorchi... OMIM:619522
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Postnatal growth retardation, Carpal bone hypoplasia, Tapered phalanx of finger, Small epiphyses,... OMIM:611717
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Clinodactyly of the 5th finger, Genu valgum, Clubbing, Postaxial h... OMIM:619143
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Primary ameno... OMIM:146255
Distal Deletion 10Q
Postnatal growth retardation, Short nose, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th f... ORPHA:96148
Warburg Micro Syndrome 2
Postnatal growth retardation, Short nose, Prominent nasal bridge, Flexion contracture, Small scro... OMIM:614225
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Flexion contracture OMIM:618856
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Short nose, Genu valgum, Rhizomelia, Flat capital femoral epiphysis, Small epiphyses, Metaphyseal... OMIM:271510
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenom... OMIM:160800
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Pancreatic lymphangiectasis, Proptosis, Hypertelorism, Cryptorchidism, Micropeni... OMIM:235255
Baker-Gordon Syndrome
Short nose, Prominent nasal tip OMIM:618218
Congenital Disorder Of Glycosylation, Type Iu
Secondary microcephaly, Short nose, Micrognathia OMIM:615042
Pfeiffer Syndrome
Short nose, 3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Fing... OMIM:101600
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Percussion myotonia, Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased ... ORPHA:34516
Sclerosteosis 1
Irregular menstruation, Sclerotic scapulae, Proptosis, Cortically dense long tubular bones, Facia... OMIM:269500
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing, Small epiphyses, Dispro... OMIM:608728
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of toe, Proptosis, Impaired glucose tolerance, Recurrent sinusitis, Flexion c... OMIM:256040
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... ORPHA:3320
Brachydactyly, Type B1
Aplasia/Hypoplasia of the distal phalanges of the hand, Wide anterior fontanel, Short long bone, ... OMIM:113000
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di... ORPHA:166016
Marbach-Rustad Progeroid Syndrome
Reduced bone mineral density, Proptosis, Shallow orbits, Short stature, Reduced subcutaneous adip... OMIM:619322
Prolidase Deficiency
Short nose, Proptosis, Failure to thrive, Depressed nasal bridge, Hypertelorism, Concave nasal ridge OMIM:170100
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Fraser Syndrome 1
Clitoral hypertrophy, Hypospadias, Wide nose, Cleft ala nasi, Underdeveloped nasal alae, Bicornua... OMIM:219000
Craniosynostosis 4
Lambdoidal craniosynostosis, Bicoronal synostosis, Proptosis, Coronal craniosynostosis, Depressed... OMIM:600775
Intellectual Developmental Disorder, Autosomal Dominant 1
Secondary microcephaly, Short nose, Retrognathia, Postnatal growth retardation, Clinodactyly of t... OMIM:156200
Meckel Syndrome, Type 8
Polydactyly, Short nose, Microcephaly, Depressed nasal ridge OMIM:613885
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Macrocephaly, Short long bone, Femoral bowing, Acetabular spurs, Postaxial ... OMIM:615503
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Talipes, Micromelia, Metatarsus adductus, Broad... ORPHA:2249
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short ribs, S... OMIM:616300
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Short nose, Advanced eruption of teeth, Macrocephaly, Progressive microcephaly, Failure to thrive... OMIM:617865
Bardet-Biedl Syndrome
Childhood-onset truncal obesity, Abnormality of the endocrine system, Hypoplasia of the ovary, Hy... ORPHA:110
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short nose, Clinodactyly of the 5th finger, Anteverted nares, 2-3 toe syndactyly, Depressed nasal... OMIM:613443
Crouzon Syndrome
Proptosis, Choanal atresia, Multiple suture craniosynostosis, Convex nasal ridge, Hypertelorism ORPHA:207
Saul-Wilson Syndrome
Postnatal growth retardation, Short metatarsal, Cone-shaped epiphyses of the phalanges of the han... OMIM:618150
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Retrognathia, Anteverted nares, Growth delay, Recurrent upper respiratory tract infec... OMIM:614069
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Pseudoachondroplasia
Disproportionate short-limb short stature, Short long bone, Short metacarpal, Metaphyseal irregul... OMIM:177170
Multiple Pterygium-Malignant Hyperthermia Syndrome
Hypotelorism, Inguinal hernia, Proptosis, Arthrogryposis multiplex congenita, Camptodactyly of fi... ORPHA:2215
Meier-Gorlin Syndrome 6
Delayed puberty, Short nose, Sandal gap, Anteverted nares, Underdeveloped nasal alae, Depressed n... OMIM:616835
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Triphalangeal thumb, Abnormal metacarpal morphology,... ORPHA:2378
Chilton-Okur-Chung Neurodevelopmental Syndrome
Hypospadias, Low hanging columella, Anteverted nares, Anterior pituitary hypoplasia, Short statur... OMIM:619841
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Mucolipidosis Type Iii Alpha/Beta
Postnatal growth retardation, Osteolysis, Proptosis, Generalized osteoporosis, Short stature, Fle... ORPHA:423461
Congenital-Onset Steinert Myotonic Dystrophy
Talipes, Facial hypotonia, Decreased body weight, Obesity, Myotonia, Bundle branch block, First d... ORPHA:589821
Gangliocytoma
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Impotence, Abnormal prol... ORPHA:251937
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Synostosis of carpal bones, Micromelia, Camptodactyly of finger, Mesom... ORPHA:2741
Fanconi Anemia
Reduced bone mineral density, Hypospadias, Abnormal preputium morphology, Azoospermia, Decreased ... ORPHA:84
Melanocytic Nevus Syndrome, Congenital
Short nose, Narrow nasal ridge, Anteverted nares, Broad nasal tip, Prominence of the premaxilla OMIM:137550
Alg9-Cdg
Short nose, Abnormal bone ossification, Rhizomelia, Hypoplasia of the ovary, Low insertion of col... ORPHA:79328
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic pub... OMIM:609616
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Short nose, Retrognathia, Macrocephaly, Tapered finger, Hypoplasia of teeth, Obesity, Micrognathi... OMIM:620250
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Bowing of the legs, Limb undergrowth ORPHA:156728
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Postnatal growth retardation, Short nose, Macrocephaly, Clinodactyly of the 5th finger, Abnormal ... ORPHA:251028
Beare-Stevenson Cutis Gyrata Syndrome
Hypospadias, Anteverted nares, Bifid scrotum, Choanal atresia, Proptosis, Prominent scrotal raphe... OMIM:123790
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Jeune Syndrome
Abnormal metaphysis morphology, Cone-shaped epiphysis, Postaxial hand polydactyly, Abnormal pelvi... ORPHA:474
Robinow Syndrome, Autosomal Dominant 3
Short nose, Anteverted nares, Proptosis, Camptodactyly, Clitoral hypoplasia, Omphalocele, Short s... OMIM:616894
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Short nose, External genital hypoplasia, Hypotelorism, Failure to thrive, Contracture... ORPHA:329178
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Bartsocas-Papas Syndrome
Short nose, Finger syndactyly, Microcephaly, Aplasia/Hypoplasia of the distal phalanges of the to... ORPHA:1234
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Proximal placement of thumb, Progressive microcephaly, Anteverted nares, Choanal atre... OMIM:610536
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Convex nasal ridge, Hypertelorism, Proptosis, Choanal atresia ORPHA:93262
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Large tarsal bones, Flared metaphysis, Anteverted nares, Short long bone, Aplasia/Hypoplasia of t... OMIM:215150
Juvenile Nasopharyngeal Angiofibroma
Proptosis, Nasal congestion, Epistaxis ORPHA:289596
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Wide nose, Rectovaginal fistula, Labial hypoplasia, Craniosynostosis, Bicor... OMIM:300707
Microhydranencephaly
Proptosis, Short stature, Growth delay, Prominent nasal bridge, Multiple joint contractures OMIM:605013
Spondylometaphyseal Dysplasia, Schmidt Type
Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Genu valgum, Abn... ORPHA:93316
Combined Oxidative Phosphorylation Deficiency 25
Short nose, Anteverted nares, Short stature, Failure to thrive, Reduced circulating growth hormon... OMIM:616430
Kleefstra Syndrome Due To 9Q34 Microdeletion
Short nose, Inguinal hernia, Hypoplasia of penis, Anteverted nares, Abnormal testis morphology, F... ORPHA:96147
Distal Duplication 5Q
Short nose, Hypospadias, Short stature, Prominent nasal bridge, Hernia, Craniosynostosis, Cryptor... ORPHA:96097
Fetal Alcohol Syndrome
Short nose, Anteverted nares, Biparietal narrowing, Microcephaly, Short stature, Micrognathia, In... ORPHA:1915
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Retrognathia, Clinodactyly of the 5th finger, Sandal gap, 2-3 toe syndactyly, Microce... OMIM:617061
Nievergelt Syndrome
Pes cavus, Tarsal synostosis, Genu valgum, Metatarsus adductus, Mesomelia, Radioulnar synostosis,... OMIM:163400
Otospondylomegaepiphyseal Dysplasia
Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il... ORPHA:1427
Myotonia Congenita, Autosomal Recessive
Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... OMIM:255700
Acromesomelic Dysplasia 1
Hypoplasia of the radius, Broad finger, Short nose, Short metatarsal, Disproportionate short-limb... OMIM:602875
Gomez-Lopez-Hernandez Syndrome
Short nose, Decreased response to growth hormone stimulation test, Anteverted nares, Short statur... OMIM:601853
Micro Syndrome
Delayed puberty, Short nose, Hypoplasia of penis, Anteverted nares, Hypoplastic labia minora, Cli... ORPHA:2510
Myotonia With Skeletal Abnormalities And Mental Retardation
Genu valgum, Skeletal muscle hypertrophy, Firm muscles, Irregular femoral epiphysis, Myotonia OMIM:255710
Gm1 Gangliosidosis
Abnormal metaphysis morphology, Congestive heart failure, Abnormal diaphysis morphology, Cardiomy... ORPHA:354
Muenke Syndrome
Coronal craniosynostosis, Hypertelorism, Proptosis, Short stature OMIM:602849
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Clinodactyly of the 5th finger, Decreased body weight, Microcephaly... OMIM:608747
Whipple Disease
Erectile dysfunction, Cachexia, Proptosis, Hypothyroidism, Insulin resistance ORPHA:3452
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Short nose, Anteverted nares, Microcephaly, Broad hallux, Bulbous nose, Depressed nasal bridge OMIM:614105
Alg6-Cdg
Increased circulating androgen concentration, Hypertelorism, Failure to thrive, Puberty and gonad... ORPHA:79320
Ruvalcaba Syndrome
Short metatarsal, Short metacarpal, Micromelia, Short palm, Short phalanx of finger, Short foot, ... OMIM:180870
Pfeiffer Syndrome Type 1
Short nose, Short hallux, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad thumb, Short ... ORPHA:93258
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Fraser Syndrome
Hypospadias, Cleft ala nasi, Abnormal vagina morphology, Hypoplasia of penis, Underdeveloped nasa... ORPHA:2052
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Anteverted nares, Mesomelic/rhizomelic limb shortening, Proptosis, Campt... OMIM:605039
Image Syndrome
Metaphyseal dysplasia, Hypogonadism, Micromelia ORPHA:85173
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Short nose, Bulbous nose, Wide nasal bridge, Mild short stature OMIM:620292
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Short nose, Inguinal hernia, Hypoplasia of penis, Abnormal dental enamel morphology, Hypothyroidi... ORPHA:1812
Chops Syndrome
Short nose, Anteverted nares, Proptosis, Short stature, Obesity, Cryptorchidism, Hypertelorism OMIM:616368
Congenital Insensitivity To Pain With Severe Intellectual Disability
Rocker bottom foot, Congenital bilateral hip dislocation, Tibial bowing, Micrognathia, Limb under... ORPHA:453510
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... ORPHA:2256
Chondrodysplasia Punctata, Autosomal Dominant
Hypoplasia of the nasal bone, Hip contracture, Moderate postnatal growth retardation, Epiphyseal ... OMIM:118650
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lipoatrophy, Generalized lipodystrophy, Narrow nasal ridge, Proptosis, Reduced subcutaneous adipo... OMIM:616914
Keppen-Lubinsky Syndrome
Generalized lipodystrophy, Narrow nasal bridge, Decreased serum leptin, Proptosis, Shallow orbits... OMIM:614098
Peho Syndrome
Progressive microcephaly, Short nose, Retrognathia, Tapered finger OMIM:260565
Shashi-Pena Syndrome
Proptosis, Osteoporosis, Broad nasal tip, Intrauterine growth retardation, Hypoglycemia, Hypertel... OMIM:617190
Mosaic Variegated Aneuploidy Syndrome 2
Short nose, Clinodactyly of the 5th finger, Rhizomelia, Severe intrauterine growth retardation, I... OMIM:614114
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short nose, Clinodactyly of the 5th finger, Anteverted nares, Biparietal narrowing, Short stature... ORPHA:2031
Mandibulofacial Dysostosis-Microcephaly Syndrome
Secondary microcephaly, Short nose, Hypoplasia of the maxilla, Short stature, Micrognathia, Preax... ORPHA:79113
Tetrasomy 12P
Short nose, Delayed eruption of teeth, Cachexia, Anteverted nares, Short stature ORPHA:884
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Inguinal hernia, Anteverted nares, Proptosis, Camptodactyly, Shallow orbits, Minimal ... OMIM:182212
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Long nose, Short nose, Hypospadias, Camptodactyly, Short stature... OMIM:617602
Harel-Yoon Syndrome
Short nose, Mandibular prognathia, Micrognathia, Hip dysplasia OMIM:617183
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short nose, Retrognathia, Microcephaly, Failure to thrive, Short stature, Intrauterine growth ret... OMIM:618005
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ... ORPHA:56305
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Delayed puberty, Decreased response to growth hormone stimulation test, Bilateral camptodactyly, ... OMIM:619234
Dysostosis, Stanescu Type
Narrow nasal bridge, Increased bone mineral density, Abnormal dental enamel morphology, Proptosis... ORPHA:1798
Ulnar-Mammary Syndrome
Delayed puberty, Breast hypoplasia, Inguinal hernia, Anterior pituitary hypoplasia, Hypoplastic n... OMIM:181450
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovaria... ORPHA:64739
Atypical Werner Syndrome
Delayed puberty, Lipoatrophy, Reduced bone mineral density, Hypogonadism, Fasting hyperinsulinemi... ORPHA:79474
Mckusick-Kaufman Syndrome
Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal fistula, Vaginal... OMIM:236700
Orofaciodigital Syndrome Type 4
Short nose, Wide nose, Rectovaginal fistula, Monorchism, Perineal fistula, Proptosis, Choanal atr... ORPHA:2753
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Flat acetabular roof, Bowing of the long bones, Missing ribs, Mic... ORPHA:1801
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Short nose, Mandibular prognathia, Microcephaly, Syndactyly, Clinodactyly OMIM:618087
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Short nose, Multiple joint contractures, Inguinal hernia, Anteverted nares, Atrophic ... ORPHA:536471
Marshall Syndrome
Small distal femoral epiphysis, Small proximal tibial epiphyses, Short nose, Clinodactyly of the ... OMIM:154780
Thanatophoric Dysplasia
Intrauterine growth retardation, Disproportionate short-limb short stature, Proptosis, Depressed ... ORPHA:2655
Kagami-Ogata Syndrome
Diastasis recti, Pulmonary arterial hypertension, Pulmonic stenosis, Long fingers, Micrognathia, ... OMIM:608149
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Increased circulating dehydroepiandrost... OMIM:201810
Intellectual Developmental Disorder, X-Linked 98
Secondary microcephaly, Long nose, Short nose, Postnatal growth retardation, Clinodactyly of the ... OMIM:300912
Shprintzen-Goldberg Syndrome
Osteopenia, Inguinal hernia, Anteverted nares, Proptosis, Camptodactyly of finger, Failure to thr... ORPHA:2462
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Short nose, Clinodactyly of the 5th finger, Anteverted nares, 2-3 toe syndactyly, Coxa vara, Micr... OMIM:614701
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Rhizomelia, Severe limb shortening, Metaphyseal cupping, Hypoplastic pubic bone, Short ribs, Shor... OMIM:151210
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short nose, Aplasia of the distal phalanx of the 5th toe, Agenesis of central incisor, Microcepha... ORPHA:364577
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Postnatal growth retardation, Short nose, Progressive microcephaly, Decreased body weight, Microc... OMIM:300749
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Shawl scrotum ORPHA:85277
Pyruvate Dehydrogenase E1-Alpha Deficiency
Pes cavus, Talipes, Limb undergrowth, Flexion contracture, Ventricular septal defect, Small for g... ORPHA:79243
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Delayed puberty, Narrow nasal bridge, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Fa... ORPHA:466791
Hyperostosis Cranialis Interna
Hyposmia, Calvarial hyperostosis, Proptosis, Anosmia, Hyperostosis cranialis interna, Osteosclero... OMIM:144755
Cole-Carpenter Syndrome 2
Osteopenia, Postnatal growth retardation, Lambdoidal craniosynostosis, Proptosis, Coronal cranios... OMIM:616294
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Joint contracture, Proptosis OMIM:617481
3C Syndrome
Postnatal growth retardation, Short nose, Macrocephaly, Abnormal hip bone morphology, Finger synd... ORPHA:7
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Short nose, Prominent nasal bridge, Flexion contracture, Bulbous nose, Micropenis, Interphalangea... OMIM:613870
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Coxa vara, Micromelia ORPHA:168555
Foxg1 Syndrome Due To 14Q12 Microdeletion
Short nose, Mandibular prognathia, Microcephaly, Growth delay, Bulbous nose, Depressed nasal bridge ORPHA:261144
Glutamine Deficiency, Congenital
Short nose, Bradycardia, Camptodactyly, Micromelia, Flexion contracture, Wide nasal bridge OMIM:610015
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Proximal placement of thumb, Wide anterior fontanel, Anteverted nares, Microcephaly, ... OMIM:217980
Pterygium Colli, Isolated
Short nose OMIM:177990
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short nose, Genu valgum, Flared metaphysis, Delayed epiphyseal ossification, Underdeveloped nasal... OMIM:616007
Pallister-Hall Syndrome
Hypothalamic hamartoma, Thyroid hypoplasia, Umbilical hernia, Small scrotum, Central adrenal insu... ORPHA:672
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Flared metaphysis, Delayed epiphyseal ossification, Short ribs, Cen... OMIM:602557
Leprechaunism
Postnatal growth retardation, Clitoral hypertrophy, Hyperinsulinemia, Wide nose, Long penis, Post... ORPHA:508
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Clinodactyly of the 5th finger, Sandal gap, Spina bifida occulta, Anterior open-bite ... OMIM:617877
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyrotoxicosis with diffuse goiter, Proptosis, Hyperthyroidism, Weight loss, Goiter, Activating t... ORPHA:424
Toriello-Lacassie-Droste Syndrome
Epispadias, Short nose, Hypospadias, Anteverted nares, Proptosis, Growth delay, Failure to thrive... ORPHA:3339
Tetrasomy 18P
Microcephaly, Short nose ORPHA:3307
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Postnatal growth retardation, Short nose, Progressive microcephaly, Anteverted nares, Congenital ... ORPHA:357074
Xylt1-Cdg
Flared metaphysis, Short clavicles, Short long bone, Relative macrocephaly, Broad thumb, Microcep... ORPHA:370930
Brachytelephalangic Chondrodysplasia Punctata
Postnatal growth retardation, Short nose, Epiphyseal stippling of toe phalanges, Epiphyseal stipp... ORPHA:79345
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Inguinal hernia, Proptosis, Umbilical hernia, Cryptorchidism, Hypertel... ORPHA:2789
Cartilage-Hair Hypoplasia
Abnormal hip bone morphology, Tibial bowing, Cardiomyopathy, Mesomelia, Abnormal epiphysis morpho... ORPHA:175
16P11.2P12.2 Microdeletion Syndrome
Long nose, Short nose, Proximal placement of thumb, Anteverted nares, Short stature, Camptodactyl... ORPHA:261211
Frias Syndrome
Short stature, Hypertelorism, Proptosis OMIM:609640
Cebalid Syndrome
Congenital diaphragmatic hernia, Short nose, Anteverted nares, Depressed nasal ridge, Hypertelori... OMIM:618774
Microcephaly 26, Primary, Autosomal Dominant
Short nose, Microcephaly, Failure to thrive, Short stature, Prominent nasal bridge, Wide nasal br... OMIM:619179
Rhombencephalosynapsis
Polydactyly, Short nose, Macrocephaly, Finger syndactyly, Anteverted nares, Short phalanx of fing... ORPHA:59315
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Met... OMIM:613091
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Proptosis, Severe short stature, Umbilical hernia, Hypospadias, Inguinal her... ORPHA:3107
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Micromelia, Hypoplastic left heart ORPHA:2772
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormally shaped carpal bones, Cuboidal metacarpal, Short metacarpal, Abnorma... ORPHA:968
Jackson-Weiss Syndrome
Convex nasal ridge, Hypertelorism, Proptosis ORPHA:1540
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Short nose, Progressive microcephaly, Microcephaly, Micrognathia, Natal tooth, Depressed nasal br... OMIM:617802
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metacarpal osteolysis, Ankle flexion contracture, Carpal osteolysis, Narrow nasal bri... OMIM:259600
Macrocephaly/Autism Syndrome
Large for gestational age, Postnatal macrocephaly, Short nose, Biparietal narrowing, Obesity, Dep... OMIM:605309
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Single naris, Absent external genitalia, Hypoplasia of the fallo... OMIM:273395
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Proptosis, Male pseudohermaphroditism, Short stature, Abnorma... ORPHA:140
Houge-Janssens Syndrome 3
Inguinal hernia, Proptosis, Broad nasal tip, Umbilical hernia, Hypertelorism OMIM:618354
Erdheim-Chester Disease
Diabetes insipidus, Increased bone mineral density, Proptosis, Weight loss, Hypogonadotropic hypo... ORPHA:35687
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Micrognathia, Metaphyseal wide... ORPHA:440354
Meckel Syndrome, Type 9
Limb undergrowth, Talipes equinovarus OMIM:614209
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Hyperglycemia, Irregular menstruation OMIM:615986
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Abnormal metatarsal morphology, Anteverted nares, Short long bone, Aplasia/Hypoplasia involving t... ORPHA:163654
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Mosaic Variegated Aneuploidy Syndrome 1
Postnatal growth retardation, Short nose, Hypospadias, Wide nose, Anteverted nares, Bifid scrotum... OMIM:257300
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Short nose, Hypotelorism, Inguinal hernia, Anteverted nares, Mic... OMIM:618454
Kniest Dysplasia
Rhizomelia, Inguinal hernia, Delayed epiphyseal ossification, Proptosis, Hip contracture, Umbilic... OMIM:156550
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Ankle flexion contracture, Severe failure to thrive, Hypotelorism, Hypospadias, Multiple joint co... ORPHA:468631
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, Facial diplegia, Myotonia, Hypogonadism, First degree atriov... OMIM:160900
Congenital Disorder Of Glycosylation, Type Il
Short nose, Microcephaly, Failure to thrive, Depressed nasal bridge, Hip dislocation OMIM:608776
Cenani-Lenz Syndrome
Short nose, Abnormal dental enamel morphology, Proptosis, Hypothyroidism, Convex nasal ridge, Hyp... ORPHA:3258
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of all phalanges of finger... OMIM:601356
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Limb undergrowth, Abnormal limb bone morphology ORPHA:2204
Ichthyosis, Congenital, Autosomal Recessive 4B
Failure to thrive, Proptosis OMIM:242500
Diastrophic Dysplasia
Abnormal metaphysis morphology, Short finger, Abnormal metacarpal morphology, Proximal placement ... ORPHA:628
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Proptosis, Abnormality of the hypothalamus-pituitary axis, Short stature, Campto... ORPHA:251014
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Short nose, Anteverted nares ORPHA:228384
Antley-Bixler Syndrome
Short nose, Anteverted nares, Proptosis, Choanal atresia, Camptodactyly of finger, Craniosynostos... ORPHA:83
Richieri Costa-Da Silva Syndrome
Distal lower limb muscle weakness, Handgrip myotonia, Genu valgum, Asymmetric limb muscle stiffne... ORPHA:3101
Thanatophoric Dysplasia Type 2
Short stature, Proptosis, Depressed nasal bridge ORPHA:93274
Baller-Gerold Syndrome
Short nose, Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the... ORPHA:1225
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Short nose, Micrognathia, Symphalangism affecting the phalanges of the hand ORPHA:2547
Microcephaly 3, Primary, Autosomal Recessive
Prominent nose, Proptosis, Short stature, Growth delay OMIM:604804
Acrocraniofacial Dysostosis
Anteverted nares, Proptosis, Choanal atresia, Short stature, Prominent nasal bridge, Craniosynost... ORPHA:949
Dermotrichic Syndrome
Short nose, Depressed nasal bridge, Proportionate short stature ORPHA:99688
Alkuraya-Kucinskas Syndrome
Overlapping fingers, Short nose, Macrocephaly, Anteverted nares, Camptodactyly, Micrognathia, Add... OMIM:617822
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short nose, Anteverted nares, Short stature, Failure to thrive, Micrognathia, Depressed nasal bridge OMIM:242860
Isolated Arrhinia
Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Absent nasal septal cartilage... ORPHA:1134
Myotonia, Potassium-Aggravated
Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Elevated circulating creatin... OMIM:608390
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, 2-3 toe syndactyly, Tapered finger, Hypoplasia of the maxilla, Long fingers, Wide nas... OMIM:218000
Warburg Micro Syndrome 3
Postnatal growth retardation, Short nose, Hypoplastic labia minora, Decreased testicular size, Fl... OMIM:614222
Desmosterolosis
Abnormality of the nose, Short nose, Retrognathia, Macrocephaly, Metatarsus adductus, Failure to ... ORPHA:35107
Brain Malformations With Or Without Urinary Tract Defects
Failure to thrive, Anteverted nares, Macrocephaly, Short nose OMIM:613735
Marshall-Smith Syndrome
Large sternal ossification centers, Short nose, Anteverted nares, Decreased body weight, Choanal ... OMIM:602535
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Secondary microcephaly, Short nose, Clinodactyly of the 5th finger, Primary microcephaly, 2-3 toe... ORPHA:476126
Congenital Myopathy 22A, Classic
Proptosis, Osteoporosis, Congenital finger flexion contractures, Hip contracture, Achilles tendon... OMIM:620351
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Metaphyseal cupping, Bowing of the long bones, Micromelia, Hypoplasti... ORPHA:85166
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Short nose, Microcephaly, Shortening of all distal phalanges of the fingers, Growth delay, Broad ... OMIM:614749
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Talipes, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, ... ORPHA:1908
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Carpal bone hypoplasia, Genu valgum, Disproportionate short-limb short stature, Metaphyseal cuppi... OMIM:250420
Frontofacionasal Dysplasia
Short nose, Dimple on nasal tip, Bifid nasal tip, Choanal atresia, Depressed nasal ridge, Short s... ORPHA:1791
Meier-Gorlin Syndrome 7
Clitoral hypertrophy, Hypospadias, Breast aplasia, Decreased body weight, Choanal atresia, Sagitt... OMIM:617063
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Thyroiditis, Proptosis, Choanal atresia, Camptodactyly, Hypothyroidism, Failure to thrive in infa... ORPHA:228426
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Talipes, Calf muscle hypertrophy, Upper limb muscle weakness, Elevated circulating creatine kinas... ORPHA:209335
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Disproportionate short-limb short stature, Triangular shaped distal phalanges of the hand, Short ... OMIM:271665
Cole-Carpenter Syndrome 1
Osteopenia, Reduced bone mineral density, Proptosis, Shallow orbits, Coronal craniosynostosis, Sh... OMIM:112240
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Reduced bone mineral density, Intrauterine growth retardation, Hyperinsulinemia,... ORPHA:99413
Mosaic Monosomy X
Delayed puberty, Reduced bone mineral density, Intrauterine growth retardation, Hyperinsulinemia,... ORPHA:99228
Monosomy X
Delayed puberty, Reduced bone mineral density, Intrauterine growth retardation, Hyperinsulinemia,... ORPHA:99226
Turner Syndrome
Delayed puberty, Reduced bone mineral density, Intrauterine growth retardation, Hyperinsulinemia,... ORPHA:881
Alström Syndrome
Precocious puberty in females, Primary hypothyroidism, Recurrent sinusitis, Decreased circulating... ORPHA:64
Thanatophoric Dysplasia, Type I
Macrocephaly, Disproportionate short-limb short stature, Short greater sciatic notch, Flared meta... OMIM:187600
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Acrocallosal Syndrome
Bifid distal phalanx of the thumb, Postaxial hand polydactyly, Duplication of thumb phalanx, Fail... OMIM:200990
Facial Paresis, Hereditary Congenital, 3
Anteverted nares, Short nose, Micrognathia, Depressed nasal bridge OMIM:614744
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ... OMIM:164900
Familial Gestational Hyperthyroidism
Thyrotoxicosis with diffuse goiter, Proptosis, Hyperthyroidism, Weight loss, Goiter, Activating t... ORPHA:99819
Lathosterolosis
Short nose, Anteverted nares, Postaxial hand polydactyly, Biparietal narrowing, Microcephaly, Fai... ORPHA:46059
Hall-Riggs Syndrome
Abnormal metaphysis morphology, Failure to thrive, Limb undergrowth, Brachydactyly, Abnormal epip... ORPHA:2107
Hand-Foot-Genital Syndrome
Hypospadias, Longitudinal vaginal septum, Delayed ossification of carpal bones, Bifid scrotum, Ut... OMIM:140000
Multiple Osteochondromas
Abnormal femur morphology, Limitation of knee mobility, Abnormal lower limb bone morphology, Defo... ORPHA:321
Congenital Disorder Of Glycosylation, Type Iie
Short nose, Retrognathia, Wide nose, Progressive microcephaly, Short stature, Failure to thrive, ... OMIM:608779
Nicolaides-Baraitser Syndrome
Broad distal phalanx of finger, Wide nasal base, Sandal gap, Broad 2nd toe, Short metacarpal, Mic... OMIM:601358
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Long nose, Enlarged metaphyses, Short metacarpal, Microcephaly, Abn... ORPHA:508533
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Proximal placement of thumb, Finger a... OMIM:602418
Vascular Malformation, Primary Intraosseous
Proptosis, Umbilical hernia OMIM:606893
Trichothiodystrophy 1, Photosensitive
Short nose, Short stature, Absence of subcutaneous fat, Flexion contracture, Hypogonadism, Small ... OMIM:601675
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Epispadias, Hypospadias, Bifid scrotum, Proptosis, Depressed nasal ridge, Hypertelorism, Shawl sc... ORPHA:2211
Rhizomelic Chondrodysplasia Punctata
Abnormal metaphysis morphology, Rhizomelia, Epiphyseal stippling, Limb undergrowth, Abnormal epip... ORPHA:177
Craniofaciofrontodigital Syndrome
Osteopenia, Large for gestational age, Proptosis, Osteoporosis, Short stature, Hernia, Hypertelor... ORPHA:363705
Short Stature With Microcephaly And Distinctive Facies
Osteopenia, Anteverted nares, Decreased body weight, Proptosis, Severe short stature, Small for g... OMIM:615789
Localized Scleroderma
Abnormality of the nose, Sclerosis of finger phalanx, Abnormal bone structure, Proptosis, Hashimo... ORPHA:90289
Ogden Syndrome
Bifid nasal tip, Proptosis, Umbilical hernia, Intrauterine growth retardation, Inguinal hernia, D... OMIM:300855
Denys-Drash Syndrome
Congenital diaphragmatic hernia, Ambiguous genitalia, male, Gonadal dysgenesis, Ambiguous genital... OMIM:194080
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes insipidus, Hype... OMIM:203800
Microlissencephaly-Micromelia Syndrome
Secondary microcephaly, Adducted thumb, Short nose, Failure to thrive ORPHA:50810
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Increased bone mineral density, Anteverted nares, Proptosis, Ectopic anterior pituitary gland, Co... OMIM:620558
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Hyperinsulinemia, Cystic angiomatosis of bone, Decreased serum leptin, Redu... OMIM:608594
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, Broad columella, Overla... OMIM:619383
Primary Ciliary Dyskinesia
Male infertility, Nasal congestion, Chronic rhinitis, Nasal polyposis, Abnormal sperm motility, F... ORPHA:244
Dpm1-Cdg
Muscular dystrophy, Sandal gap, Elevated circulating creatine kinase concentration, Camptodactyly... ORPHA:79322
Desmosterolosis
Short nose, Macrocephaly, Rhizomelia, Anteverted nares, Relative macrocephaly, Microcephaly, Fail... OMIM:602398
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Short 4th metacarpal, Genu valgum, Rhizomelia, Mild short stature, Disproportionate short-limb sh... OMIM:618019
Genitourinary And/Or Brain Malformation Syndrome
Short nose, Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryp... OMIM:618820
Ulnar Hypoplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... OMIM:191440
Melnick-Needles Syndrome
Abnormal cortical bone morphology, Osteolytic defects of the phalanges of the hand, Craniofacial ... ORPHA:2484
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Halberd-shaped pelvis, Micromelia... ORPHA:2635
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Short greater sciatic notch, Femoral bowing, Split hand, Bowing o... ORPHA:1860
Omodysplasia 2
Fibular hypoplasia, Clinodactyly of the 5th finger, Dislocated radial head, Dyspareunia, Rhizomel... OMIM:164745
Camurati-Engelmann Disease
Delayed puberty, Abnormal subcutaneous fat tissue distribution, Hyperostosis, Cachexia, Proptosis... ORPHA:1328
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Intrauterine growth retardation, Type I diabetes mellitus, Diabetes mellitus, Smal... OMIM:606176
Schinzel-Giedion Midface Retraction Syndrome
Postnatal growth retardation, Short nose, Thickened cortex of long bones, Hypospadias, Anteverted... OMIM:269150
Apert Syndrome
Ovarian neoplasm, Proptosis, Choanal atresia, Convex nasal ridge, Hypertelorism, Depressed nasal ... ORPHA:87
Holoprosencephaly 3
Abnormality of the nose, Central diabetes insipidus, Cyclopia, Single naris, Proboscis, Hypotelor... OMIM:142945
3P25.3 Microdeletion Syndrome
Proximal placement of thumb, Acromesomelia, Pulmonic stenosis, Broad thumb, Postaxial polydactyly... ORPHA:435638
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... OMIM:613986
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Short nose, Hypospadias, Anteverted nares, Male pseudohermaphroditism, Short stature, Hypertelori... ORPHA:2282
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Osteolytic defects of the distal phalanges of the hand, Proptosis, Short stature,... ORPHA:90153
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Hypospadias, Inguinal hernia, Hiatus hernia, Anteverted nares, H... OMIM:122470
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Hyperinsulinemia, Decreased fertility in females, Cystic angiomatosis of bo... OMIM:269700
Chondrodysplasia, Blomstrand Type
Flared metaphysis, Short ribs, Micromelia, Micrognathia, Advanced tarsal ossification, Squared il... OMIM:215045
Microcephaly, Short Stature, And Limb Abnormalities
Hypoplasia of the radius, Clinodactyly of the 5th finger, 11 pairs of ribs, Patellar hypoplasia, ... OMIM:617604
Roberts Syndrome
Postnatal growth retardation, Clitoral hypertrophy, Long penis, Severe intrauterine growth retard... ORPHA:3103
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Deeply set eye, Proptosis OMIM:618707
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618857
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Rhizomelia, Abnormal pancreatic duct morphology, N... ORPHA:1190
Dyssegmental Dysplasia, Silverman-Handmaker Type
Disproportionate short-limb short stature, Short long bone, Bowing of the long bones, Microcephal... OMIM:224410
Bannayan-Riley-Ruvalcaba Syndrome
Short nose, Thyroid carcinoma, Wide nose, Lipoma, Anteverted nares, Neoplasm of the adrenal corte... ORPHA:109
Marshall Syndrome
Short nose, Anteverted nares, Proptosis, Short stature, Hypertelorism, Wide nasal bridge, Depress... ORPHA:560
Trichothiodystrophy 4, Nonphotosensitive
Short nose, Retrognathia, Anteverted nares, Microcephaly, Hypoplasia of teeth, Growth delay OMIM:234050
Autosomal Recessive Robinow Syndrome
Short nose, Hypoplastic female external genitalia, Inguinal hernia, Hypoplasia of penis, Dispropo... ORPHA:1507
Kniest Dysplasia
Delayed epiphyseal ossification, Abnormal bone structure, Proptosis, Flexion contracture of finge... ORPHA:485
Trisomy 20P
Short nose, Reduced bone mineral density, Hypospadias, Inguinal hernia, Anteverted nares, Camptod... ORPHA:261318
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short nose, Hypoplasia of the ovary, Decreased testicular size, Short stature, Flexion contractur... OMIM:619321
Noonan Syndrome
Osteopenia, Postnatal growth retardation, Delayed menarche, Proptosis, Short stature, Hypertelori... ORPHA:648
Trisomy 18
Congenital diaphragmatic hernia, Short nose, Cyclopia, Cachexia, Choanal atresia, Intrauterine gr... ORPHA:3380
Rothmund-Thomson Syndrome, Type 2
Short nose, Annular pancreas, Osteoporosis, Short stature, Hypertelorism, Hypogonadism, Cryptorch... OMIM:268400
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Narrow nasal ridge, Proptosis, Intrauterine growth retardation, Narrow nose, Increas... OMIM:264090
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... OMIM:119800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Large for gestational age, Short nose, Macrocephaly, Anteverted nares, De... OMIM:615398
Miller-Dieker Lissencephaly Syndrome
Polydactyly, Short nose, Clinodactyly of the 5th finger, Delayed eruption of teeth, Anteverted na... OMIM:247200
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Arachnodactyly, Adducted thumb, Short nose, Camptodactyly OMIM:615539
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Macrocephaly, Mandibular prognathia, Tapered finger, Microcephaly, Microretrognathia,... OMIM:613603
Carey-Fineman-Ziter Syndrome
Short nose, Anteverted nares, Microcephaly, Short stature, Micrognathia, Growth delay, Brachydact... ORPHA:1358
Oculodentodigital Dysplasia
Clinodactyly, Taurodontia, Anteverted nares, Carious teeth, Broad columella, Preaxial hand polyda... ORPHA:2710
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Transverse vaginal septum, Central diabetes insipidus, Decreased response to growth hormone stimu... OMIM:129900
Developmental And Epileptic Encephalopathy 80
Proptosis, Growth delay, Failure to thrive, Hypertelorism, Wide nasal bridge OMIM:618580
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618858
Holoprosencephaly 11
Hypotelorism, Proptosis OMIM:614226
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Retrognathia, Micrognathia, Thick nasal alae ORPHA:163961
Hyperkalemic Periodic Paralysis
Congestive heart failure, Skeletal muscle hypertrophy, Elevated circulating creatine kinase conce... ORPHA:682
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... ORPHA:3429
Kleefstra Syndrome
Short nose, Supernumerary nipple, Hypospadias, Hypoplasia of penis, Anteverted nares, Short statu... ORPHA:261494
Diaphanospondylodysostosis
Absent in utero rib ossification, Short nose, Inguinal hernia, Absent in utero ossification of ve... OMIM:608022
Specc1L-Related Hypertelorism Syndrome
Short nose, Proptosis, Omphalocele, Female pseudohermaphroditism, Hypertelorism, Prominent nasal ... ORPHA:1519
Raine Syndrome
Short nose, Subperiosteal bone formation, Increased bone mineral density, Proptosis, Choanal atre... OMIM:259775
Pfeiffer Syndrome Type 2
Short nose, Deviation of the thumb, Short hallux, Finger syndactyly, Choanal atresia, Broad thumb... ORPHA:93259
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia... OMIM:603671
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Long nose, Short long bone, Microcephaly, Short palm, Enamel hypopl... OMIM:619184
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Short nose, Breast hypoplasia, Camptodactyly, Shallow orbits, Growth delay, Small scrotum, Shawl ... OMIM:601353
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Radial deviation of finger, Dislocated radial head, Broad thumb, Syndactyly, Short ... OMIM:268310
Chand Syndrome
Hypertelorism, Imperforate hymen, Depressed nasal bridge ORPHA:1401
Schinzel-Giedion Syndrome
Short nose, Annular pancreas, Hypospadias, Inguinal hernia, Proptosis, Camptodactyly, Shallow orb... ORPHA:798
Greenberg Dysplasia
Rhizomelia, Abnormal pelvis bone ossification, Micromelia, Micrognathia, Brachydactyly ORPHA:1426
Camurati-Engelmann Disease
Delayed puberty, Diaphyseal sclerosis, Increased bone mineral density, Proptosis, Cortical thicke... OMIM:131300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short nose, Microcephaly, Shortening of all distal phalanges of the fingers, Short stature, Broad... OMIM:614207
Paramyotonia Congenita
Skeletal muscle hypertrophy, Percussion myotonia, Handgrip myotonia, Paradoxical myotonia OMIM:168300
Robinow Syndrome, Autosomal Dominant 1
Retrognathia, Radial deviation of finger, Dislocated radial head, Short long bone, Broad thumb, C... OMIM:180700
Developmental And Epileptic Encephalopathy 48
Proptosis OMIM:617276
16P13.11 Microdeletion Syndrome
Short nose, Cyclopia, Anteverted nares, Short stature, Camptodactyly of finger, Cryptorchidism, D... ORPHA:261236
Camptobrachydactyly
Camptodactyly of finger, Septate vagina ORPHA:1319
Jackson-Weiss Syndrome
Coronal craniosynostosis, Craniosynostosis, Proptosis OMIM:123150
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Rickets, Long nose, Abnormal circulating calcium-phosphate regulating hormone concentration, Oste... ORPHA:2636
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Abnormality of the endocrine system, Premature thelarche, Intrauterine growth retardation, Decrea... ORPHA:268261
Spinocerebellar Ataxia Type 3
Proptosis ORPHA:98757
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Severe intrauterine growth retardation, Intrauterine growth retardation, Decreased r... ORPHA:3455
Nablus Mask-Like Facial Syndrome
Short nose, Labial hypoplasia, Anteverted nares, Hypoplastic nipples, Camptodactyly, Hyperteloris... OMIM:608156
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Dyspareunia, Ectopic ovary, Hypoplasia of the vagina, Prima... ORPHA:3109
Oculodentodigital Dysplasia
Short nose, Joint contracture of the 5th finger, Narrow nasal bridge, Anteverted nares, 4-5 finge... OMIM:164200
Hennekam-Beemer Syndrome
Long nose, Wide nose, Proptosis, Short stature, Camptodactyly of finger, Failure to thrive, Wide ... ORPHA:2135
3Q29 Microdeletion Syndrome
Short nose, Macrocephaly, Clinodactyly of the 5th finger, Microcephaly, Failure to thrive, Promin... ORPHA:65286
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Impaired glucose tolerance, Adrenal hyperplasia, Pulmona... ORPHA:99889
Brody Disease
Skeletal muscle hypertrophy, Percussion myotonia, Myotonia, Flexion contracture OMIM:601003
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Aplasia/Hypoplasia of the ulna ORPHA:2491
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Osteopenia, Rhizomelia, Inguinal hernia, Elbow flexion contractu... OMIM:245600
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Postnatal growth retardation, Short nose, Hypospadias, Anteverted nares, Growth delay, Umbilical ... OMIM:301040
Pallister-Hall Syndrome
Short nose, Decreased response to growth hormone stimulation test, Anteverted nares, Adrenal hypo... OMIM:146510
Cardiofaciocutaneous Syndrome 1
Osteopenia, Short nose, Anteverted nares, Proptosis, Short stature, Failure to thrive, Bulbous no... OMIM:115150
Trichohepatoenteric Syndrome 1
Hypospadias, Wide nose, Anteverted nares, Proptosis, Depressed nasal ridge, Short stature, Failur... OMIM:222470
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormal epiphysis morphology, Micromelia ORPHA:93283
Rubinstein-Taybi Syndrome 1
Proptosis, Premature thelarche, Keloids, Hypospadias, Short stature, Failure to thrive, Convex na... OMIM:180849
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ... OMIM:184253
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia OMIM:222100
Loeys-Dietz Syndrome 5
Flexion contracture of toe, Inguinal hernia, Proptosis, Congenital finger flexion contractures, S... OMIM:615582
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Hypertelorism, Proptosis OMIM:109120
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Severe intrauterine growth retardation, Pancreatic aplasia, Reduced subcut... OMIM:609069
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Atrophic scars, Decreased body weight, Proptosis, Short stature, Joint contracture, A... OMIM:615349
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Postnatal growth retardation, Anteverted nares, Proptosis, Depressed nasal tip, Broad... OMIM:300966
Restrictive Dermopathy 2
Intrauterine growth retardation, Convex nasal ridge, Proptosis OMIM:619793
Duplication Of Urethra
Epispadias, Clitoral hypertrophy, Penile hypospadias, Hypospadias, Bifid scrotum, Uterus didelphy... ORPHA:237
Phosphoribosylpyrophosphate Synthetase Superactivity
Short nose, Hypotelorism, Hypospadias, Short stature, Convex nasal ridge, Cryptorchidism, Small f... OMIM:300661
3M Syndrome
Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5... ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Shohat Type
Fibular overgrowth, Flared metaphysis, Delayed epiphyseal ossification, Central vertebral hypopla... ORPHA:93352
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Achondrogenesis Type 2
Delayed pubic bone ossification, Short long bone, Short ribs, Hypoplastic ilia, Micromelia, Delay... ORPHA:93296
Jacobsen Syndrome
Short nose, Annular pancreas, Hypospadias, Labial hypoplasia, Anteverted nares, Clitoral hypoplas... OMIM:147791
Catel-Manzke Syndrome
Postnatal growth retardation, Inguinal hernia, Low insertion of columella, Proptosis, Camptodacty... OMIM:616145
Short Stature, Microcephaly, And Endocrine Dysfunction
Pes cavus, Long nose, Limb undergrowth, Dilated cardiomyopathy, Truncal obesity, Clinodactyly OMIM:616541
Blomstrand Lethal Chondrodysplasia
Neonatal short-limb short stature, Short nose, Rhizomelia, Flared metaphysis, Metaphyseal cupping... ORPHA:50945
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Proptosis, Choanal atresia, Short stature, Absent gallbladder, Overhanging nasal tip... ORPHA:163979
Prolidase Deficiency
Reduced bone mineral density, Proptosis, Depressed nasal ridge, Hypertelorism, Depressed nasal br... ORPHA:742
Achondrogenesis, Type Ia
Hypoplasia of the radius, Short nose, Short clavicles, Anteverted nares, Hypoplastic ischia, Abno... OMIM:200600
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Delayed ossification of carpal bones,... ORPHA:93346
Hypophosphatasia, Infantile
Metaphyseal cupping, Short ribs, Micromelia, Failure to thrive, Short lower limbs, Intracranial h... OMIM:241500
Fibrochondrogenesis
Anteverted nares, Proptosis, Omphalocele, Short stature, Camptodactyly of finger, Hypertelorism, ... ORPHA:2021
Thanatophoric Dysplasia, Type Ii
Flared metaphysis, Short greater sciatic notch, Short ribs, Hypoplastic ilia, Micromelia, Brachyd... OMIM:187601
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Abnormality of body mass ... OMIM:616329
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Short nose, Choanal atresia, Deeply set eye, Bulbous nose, Depressed nasal bridge ORPHA:284169
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Postnatal growth retardation, Short nose, Decreased response to growth hormone stimulation test, ... OMIM:213980
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Rhizomelia, Tibial bowing, Femoral bowing, Pulmonary arterial hypertens... OMIM:616482
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79444
Wiedemann-Steiner Syndrome
Postnatal growth retardation, Short nose, Clinodactyly of the 5th finger, Rhizomelia, Tapered fin... ORPHA:319182
Adenylosuccinase Deficiency
Microcephaly, Anteverted nares, Short nose, Growth delay OMIM:103050
Degcags Syndrome
Osteopenia, Short nose, Hypotelorism, Hypospadias, Craniosynostosis, Small for gestational age, A... OMIM:619488
Fontaine Progeroid Syndrome
Short nose, Craniosynostosis, Small for gestational age, Hypoplastic nipples, Proptosis, Absent n... OMIM:612289
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Postnatal growth retardation, Rhizomelia, Flared meta... OMIM:608940
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Hypertension, Femoral bowing, Bifid first metacarpal, Short metacarpal, Shor... OMIM:210710
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Short nose, Low insertion of columella, Anteverted nares, Underdeveloped nasal alae, Decreased bo... OMIM:619005
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Glandular hypospadias, Urogenital sinus anomaly, Short stature, Failure to thri... ORPHA:2473
19P13.13 Microdeletion Syndrome
Short nose, Macrocephaly, Sandal gap, Anteverted nares, Long fingers, Clinodactyly, Depressed nas... ORPHA:357001
Camptobrachydactyly
Septate vagina, Congenital finger flexion contractures OMIM:114150
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Postnatal growth retardation, Short nose, Anteverted nares, Hypoplasia of the capital femoral epi... OMIM:612394
Jaberi-Elahi Syndrome
Microcephaly, Failure to thrive, Short nose, Depressed nasal bridge OMIM:617988
Smith-Lemli-Opitz Syndrome
Penoscrotal hypospadias, Hypospadias, Epiphyseal stippling, Anteverted nares, Bifid scrotum, Bico... OMIM:270400
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Hypospadias, Proptosis, Osteoporosis, Cryptorchidism, Failure to... ORPHA:280
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Short long bone, Metaphyseal spurs, ... ORPHA:85167
Poikiloderma With Neutropenia
Short nose, Retrognathia, Short stature, Carious teeth, Micrognathia, Recurrent sinusitis, Depres... OMIM:604173
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Bohring-Opitz Syndrome
Annular pancreas, Severe failure to thrive, Cholelithiasis, Anteverted nares, Proptosis, Bilatera... ORPHA:97297
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Short ... ORPHA:2879
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Arachnodactyly, Short nose, Micrognathia ORPHA:1129
Peho Syndrome
Short nose, Anteverted nares, Biparietal narrowing, Microcephaly, Tapered finger ORPHA:2836
Coxoauricular Syndrome
Abnormal femur morphology, Hip dislocation, Abnormal pelvic girdle bone morphology, Micromelia ORPHA:1508
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow greater sciatic notch, Equinovarus deformity, Short ribs, Short long bone, Bowing of the l... OMIM:224400
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Hypertelorism, Radial club hand, Proptosis ORPHA:2165
Pfeiffer Syndrome Type 3
Short nose, Short hallux, Finger syndactyly, Choanal atresia, Broad thumb, Hallux varus, Broad ha... ORPHA:93260
Congenital Varicella Syndrome
Micromelia ORPHA:291
Kaufman Oculocerebrofacial Syndrome
Short nose, Clinodactyly of the 5th finger, Anteverted nares, Congenital hip dislocation, Metatar... OMIM:244450
Coffin-Siris Syndrome
Postnatal growth retardation, Short nose, Wide nasal base, Hypospadias, Anteverted nares, Thick n... ORPHA:1465
Trisomy 10P
Abnormality of the nose, Short nose, Retrognathia, Anteverted nares, Thumb contracture, Intrauter... ORPHA:171929
Gaucher Disease, Perinatal Lethal
Short nose, Retrognathia, Anteverted nares, Decreased body weight, Microcephaly, Micrognathia, In... OMIM:608013
Thanatophoric Dysplasia, Glasgow Variant
Micromelia OMIM:273680
Spondyloepiphyseal Dysplasia Congenita
Increased head circumference, Genu valgum, Small epiphyses, Upper limb undergrowth, Short long bo... ORPHA:94068
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Gonadoblastoma, Proptosis, Omphalocele, Pancreatic hyperplasia, Adrenocort... OMIM:130650
Pseudoaminopterin Syndrome
Inguinal hernia, Proptosis, Short stature, Prominent nasal bridge, Posterolateral diaphragmatic h... ORPHA:221120
Cinca Syndrome
Growth delay, Reduced bone mineral density, Proptosis ORPHA:1451
Muenke Syndrome
Coronal craniosynostosis, Hypertelorism, Proptosis ORPHA:53271
4Q21 Microdeletion Syndrome
Micromelia, Short palm, Toe syndactyly, Short foot, Small hand ORPHA:238750
Plaa-Associated Neurodevelopmental Disorder
Rocker bottom foot, Short nose, Hyperextensibility of the finger joints, Postaxial hand polydacty... ORPHA:521426
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Aplasia/Hypoplasia of metatarsal bones, Disproportionate short-limb short stature, Flared metaphy... ORPHA:2502
Toriello-Carey Syndrome
Postnatal growth retardation, Short nose, Wide anterior fontanel, Microcephaly, Short stature, Mi... ORPHA:3338
Hypertrichosis Cubiti
Rhizomelia, Micromelia ORPHA:2220
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short nose, Short stature, Microretrognathia, Overlapping toe, Bulbous nose, Wide nasal bridge OMIM:618571
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Short nose, Large for gestational age, Anteverted nares, Hyperte... OMIM:614080
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Short nose, Progressive microcephaly, Cessation of head growth, Postaxial pol... OMIM:617527
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Large for gestational age, Neonatal hypoglycemia, Proptosis, Shallow orbits, Slender build, Promi... ORPHA:457359
Wolf-Hirschhorn Syndrome
Hypospadias, Abnormal sternal ossification, Small for gestational age, Severe postnatal growth re... OMIM:194190
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finge... ORPHA:319675
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Short nose, Decreased response to growth hormone stimulation test, Hypospadias, Anteverted nares,... ORPHA:444077
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Short nose, Macrocephaly, Wide anterior fontanel, Congenital hip dislocation, Contracture of the ... ORPHA:457279
Congenital Myopathy 22B, Severe Fetal
Short nose, Shoulder flexion contracture, Elbow flexion contracture, Proptosis, Hip contracture, ... OMIM:620369
Campomelic Dysplasia
Disproportionate short-limb short stature, Dislocated radial head, Hypoplastic iliac wing, Femora... OMIM:114290
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Clitoral hypertrophy, Rhizomelia, Hypospadias, Hypoplasia of pen... ORPHA:818
Oculocerebral Hypopigmentation Syndrome, Cross Type
Abnormal thumb morphology, Short nose, Anteverted nares, Microcephaly, Arachnodactyly, Short stat... ORPHA:2719
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Postnatal growth retardation, Generalized lipodystrophy, Osteolytic defects of the ph... OMIM:619127
Neuroblastoma
Elevated circulating catecholamine level, Proptosis, Weight loss ORPHA:635
Otopalatodigital Syndrome Type 2
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Short nose, Abnormal metacarpal morphol... ORPHA:90652
Proteus Syndrome
Lipoma, Cachexia, Calvarial hyperostosis, Proptosis, Thymus hyperplasia, Craniosynostosis, Crania... ORPHA:744
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Postnatal growth retardation, Short nose, Dysplasia of the femoral head, Hallux valgus, Anteverte... ORPHA:536467
Elsahy-Waters Syndrome
Penoscrotal hypospadias, Hypospadias, Wide nose, Low hanging columella, Anteverted nares, Bifid n... OMIM:211380
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Intrauterine growth retardation, Camptodactyly of finger, Proptosis, Short stature ORPHA:1323
Fetal Akinesia Deformation Sequence 1
Proptosis, Wrist flexion contracture, Congenital contracture, Arthrogryposis multiplex congenita,... OMIM:208150
Tbck-Related Intellectual Disability Syndrome
Broad finger, 11 pairs of ribs, Broad toe, 2-3 toe syndactyly, Diastasis recti, Pulmonic stenosis... ORPHA:488632
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Cinca Syndrome
Growth delay, Proptosis OMIM:607115
Spondylocarpotarsal Synostosis Syndrome
Short nose, Tarsal synostosis, Clinodactyly of the 5th finger, Bowed humerus, Anteverted nares, S... OMIM:272460
Granulomatosis With Polyangiitis
Abnormality of the nose, Prostatitis, Diabetes insipidus, Proptosis, Abnormality of the hypothala... ORPHA:900
Cardiofaciocutaneous Syndrome
Short nose, Macrocephaly, Genu valgum, Anteverted nares, Biparietal narrowing, Short stature, Abn... ORPHA:1340
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Vaginal atresia, Depressed nasal bridge, Short stature OMIM:617088
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short nose, Retrognathia, Short metatarsal, Anteverted nares, Short metacarpal, Intrauterine grow... OMIM:617157
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Limb undergrowth, Brachydactyly, Wide nasal bridge, Mitral regurgitation, S... OMIM:617809
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Hypoplastic iliac wing, Micromeli... ORPHA:2637
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Coffin-Lowry Syndrome
Short nose, Wide nose, Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing,... OMIM:303600
Developmental Malformations-Deafness-Dystonia Syndrome
Femoral retroversion, Hypoplastic scapulae, Micromelia, Achalasia, Macroglossia ORPHA:79107
Lathosterolosis
2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Short nose, Anteverted nares, Promine... OMIM:607330
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Hypoplasia of the radius, Hypoplasia of the ulna, Finger syndact... ORPHA:958
Ellis Van Creveld Syndrome
Situs inversus totalis, Atrioventricular canal defect, Genu valgum, Dextrocardia, Abnormal heart ... ORPHA:289
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Short stature, Hypertelorism, Postnatal growth retardation, Proptosis OMIM:614800
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hypospadias, Proptosis, Minimal subcutaneous fat, Hip contracture, Severe short stature, Knee fle... OMIM:210730
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Posterior pituitary hypoplasia, Anteverted nares, Short stature, Intrauterine growth retardation,... ORPHA:75389
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short nose, Delayed ossification of carpal bones, Mandibular prognathia, Broad nasal tip, Short t... OMIM:239300
Faciodigitogenital Syndrome, Autosomal Recessive
Short nose, Inguinal hernia, Anteverted nares, Camptodactyly, Proportionate short stature, Promin... OMIM:227330
Musculocontractural Ehlers-Danlos Syndrome
Short nose, Inguinal hernia, Atrophic scars, Arthrogryposis multiplex congenita, Hypertelorism, C... ORPHA:2953
Down Syndrome
Delayed puberty, Short nose, Depressed nasal ridge, Short stature, Obesity, Hyperthyroidism, Type... ORPHA:870
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Short nose, Breast hypoplasia, Postnatal growth retardation, Ing... ORPHA:1272
Schwartz-Jampel Syndrome
Flexion contracture of toe, Cachexia, Wrist flexion contracture, Myotonia, Abnormal epiphysis mor... ORPHA:800
Cerebrooculonasal Syndrome
Postnatal growth retardation, Short nose, Macrocephaly, Proboscis, Anteverted nares, Postaxial ha... OMIM:605627
Hydrolethalus Syndrome 1
Talipes equinovarus, Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx o... OMIM:236680
Ring Chromosome 7 Syndrome
Short nose, Hypotelorism, Hypospadias, Anteverted nares, Severe intrauterine growth retardation, ... ORPHA:1449
Myotonia Fluctuans
Handgrip myotonia, Myotonia of the upper limb, Myotonia with warm-up phenomenon, Spasticity of fa... ORPHA:99734
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... OMIM:211350
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... OMIM:250220
Short-Rib Thoracic Dysplasia 12
Short finger, Patent foramen ovale, Short ribs, Short long bone, Hypoplastic scapulae, Short palm... OMIM:269860
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Short ribs, Short long bone, Bowing of the long bones, Flat acetabular roof, Microme... OMIM:614091
Cousin Syndrome
Fibular aplasia, Rhizomelia, Clinodactyly of the 5th finger, Prominent protruding coccyx, Disloca... OMIM:260660
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
2-3 toe syndactyly, Myotonia, Premature ovarian insufficiency ORPHA:391307
Geleophysic Dysplasia 1
Short nose, Anteverted nares, Short long bone, Short foot, Irregular capital femoral epiphysis, S... OMIM:231050
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Postnatal growth retardation, Proptosis, Camptodactyly, Shallow orbits, Flexion contracture, Depr... OMIM:620029
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myotonia, Myopathy OMIM:158800
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing OMIM:156232
Au-Kline Syndrome
Short nose, Bifid nasal tip, Sagittal craniosynostosis, Shallow orbits, Failure to thrive, Wide n... OMIM:616580
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Short nose, Inguinal hernia, Hypoplastic labia majora, Joint contracture of the 5th f... ORPHA:363611
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Short nose, Hypotelorism, Hypospadias, Camptodactyly, Cryptorchidism, Short stature, Hyperteloris... OMIM:309590
Fanconi-Bickel Syndrome
Rickets, Osteopenia, Fasting hypoglycemia, Impaired glucose tolerance, Growth delay, Failure to t... ORPHA:2088
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Transverse vaginal septum, Central diabetes insipidus, Decreased response to growth hormone stimu... OMIM:604292
Branchioskeletogenital Syndrome
Penoscrotal hypospadias, Proptosis, Absent nipple, Broad nasal tip, Umbilical hernia, Craniosynos... ORPHA:1299
Noonan Syndrome 3
Short nose, Anteverted nares, Short stature, Left unilambdoid synostosis, Hypoplastic nasal bridg... OMIM:609942
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Myotonia, Skeletal muscle atrophy ORPHA:371
Microphthalmia, Syndromic 2
Hypospadias, Contracture of the proximal interphalangeal joint of the 2nd toe, Bifid nasal tip, D... OMIM:300166
Weiss-Kruszka Syndrome
Anteverted nares, Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb OMIM:618619
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Proptosis, Thin bony cortex, Osteopenia ORPHA:85184
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Shallow orbits, Intrauterine growth retardation, Male urethral m... OMIM:613406
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly... OMIM:277170
Mesomelia-Synostoses Syndrome
Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ... OMIM:600383
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Short nose, Hypospadias, Anteverted nares, Bifid scrotum, Decreased body weight,... OMIM:619475
White-Kernohan Syndrome
Short nose, Hypotelorism, Rectovaginal fistula, Anteverted nares, Underdeveloped nasal alae, Hypo... OMIM:619426
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short distal phalanx of finger, Short nose, Epistaxis, Epiphyseal stippling OMIM:277450
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Neonatal hypoglycemia, Abnormal pancr... ORPHA:116
Schisis Association
Congenital diaphragmatic hernia, Small for gestational age, Micromelia ORPHA:63862
Van Esch-O'Driscoll Syndrome
Short nose, Shallow orbits, Short stature, Growth delay, Intrauterine growth retardation, Hypogon... OMIM:301030
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Reduced bone mineral density, Abnormal circulating osteocalcin level,... ORPHA:93315
Oculoectodermal Syndrome
Proptosis, Growth delay, Depressed nasal bridge, Supernumerary nipple, Wide nasal bridge, Pineal ... OMIM:600268
Frank-Ter Haar Syndrome
Osteopenia, Anteverted nares, Proptosis, Camptodactyly, Osteoporosis, Cortical irregularity, Grow... OMIM:249420
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Clinodactyly of the 5th finger, Knee flexion contracture, Delayed pubic bone ossifica... OMIM:618162
Cornelia De Lange Syndrome 6
Short nose, Clinodactyly of the 5th finger, Anteverted nares, Microcephaly, Arachnodactyly, Short... OMIM:620568
Cerebrofaciothoracic Dysplasia
Short stature, Short nose, Macrocephaly, Wide nose ORPHA:1394
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Greenberg Dysplasia
Retrognathia, Disproportionate short-limb short stature, Short long bone, Short metacarpal, Tetra... OMIM:215140
Okamoto Syndrome
Short nose, Severe postnatal growth retardation, Anteverted nares, Underdeveloped nasal alae, Pro... ORPHA:2729
Osteogenesis Imperfecta, Type Xvi
Rhizomelia, Angulated humerus, Short long bone, Bowing of the long bones, Mesomelia, Microretrogn... OMIM:616229
Yunis-Varon Syndrome
Postnatal growth retardation, Narrow nasal base, Clitoral hypertrophy, Severe failure to thrive, ... ORPHA:3472
Spondyloenchondrodysplasia
Vasculitis, Hypertension, Hypoplastic ilia, Limb undergrowth, Raynaud phenomenon, Metaphyseal dys... ORPHA:1855
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Atrophic scars, Proptosis, Short stature, Failure to thrive, Flexion contracture, Cra... OMIM:130070
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia, Skeletal muscle atrophy OMIM:254950
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Becker Nevus Syndrome
Shoulder girdle muscle atrophy, Abnormal tibia morphology, Lower limb asymmetry, Micromelia ORPHA:64755
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Short finger, Rhizomelia, Irregular epiphyses, Broad thumb, Mesomelia, Metaphyseal widening, Brac... OMIM:612813
Achondrogenesis, Type Ib
Short ribs, Hypoplastic ilia, Micromelia OMIM:600972
Bartsocas-Papas Syndrome 1
Short nose, Inguinal hernia, Hypoplastic labia majora, Hypoplastic male external genitalia, Bicor... OMIM:263650
Ollier Disease
Abnormal metaphysis morphology, Micromelia ORPHA:296
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly, Short nose, Anteverted nares, Micrognathia, Depressed nasal bridge ORPHA:314655
Osteogenesis Imperfecta, Type Viii
Osteopenia, Inguinal hernia, Disproportionate short-limb short stature, Proptosis, Decreased skul... OMIM:610915
Wyburn-Mason Syndrome
Epistaxis, Proptosis ORPHA:53719
Trisomy 8P
Clinodactyly of the 5th toe, Short nose, Retrognathia, Clinodactyly of the 5th finger, Short 1st ... ORPHA:264450
1P21.3 Microdeletion Syndrome
Short nose, Macrocephaly, Obesity, Micrognathia, Broad nasal tip ORPHA:293948
Cadds
Intrauterine growth retardation, Short nose, Micrognathia ORPHA:369942
Holoprosencephaly 7
Short nose, Midline defect of the nose, Hypotelorism, Hypoplastic nasal septum, Panhypopituitaris... OMIM:610828
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Abnormal epiphysis morpholo... ORPHA:931
Waardenburg Syndrome Type 1
Short nose, Mandibular prognathia, Wide nasal bridge, Underdeveloped nasal alae ORPHA:894
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Increased bone mineral density, Decreased osteoclast count, ... OMIM:259720
Isolated Sedoheptulokinase Deficiency
Abnormality of globe location, Hypotelorism, Inguinal hernia, Severe postnatal growth retardation... ORPHA:440713
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Short nose, Retrognathia, Anteverted nares, Tapered finger, Short foot, Camptodactyly, Choanal at... OMIM:301044
Khan-Khan-Katsanis Syndrome
Short nose, Postaxial polydactyly, Failure to thrive, Microcephaly, Micrognathia, Short stature, ... OMIM:618460
Infantile Systemic Hyalinosis
Micromelia, Camptodactyly of finger, Short palm, Failure to thrive, Telangiectasia of the skin, B... ORPHA:2176
Mosaic Trisomy 9
Rocker bottom foot, Deep plantar creases, Finger clinodactyly, Dextrocardia, Abnormal heart valve... ORPHA:99776
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Hypertelorism, Proptosis, Depressed nasal ridge OMIM:616038
Alpha-Mannosidosis, Infantile Form
Osteopenia, Cranial hyperostosis, Proptosis, Cortical thickening of long bone diaphyses, Depresse... ORPHA:309282
Neurofibromatosis Type 1
Delayed puberty, Osteopenia, Multiple lipomas, Abnormality of the endocrine system, Pheochromocyt... ORPHA:636
Occipital Horn Syndrome
Abnormal fibula morphology, Humerus varus, Genu valgum, Large iliac wing, Abnormal pubic bone mor... ORPHA:198
Arboleda-Tham Syndrome
Low hanging columella, Bifid nasal tip, Proptosis, Bilateral cryptorchidism, Growth delay, Promin... OMIM:616268
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, 2-3 toe syndactyly, Short ribs, Missing ribs, Micromelia, Pos... OMIM:617866
Cole-Carpenter Syndrome
Intrauterine growth retardation, Abnormal dental enamel morphology, Proptosis, Short stature ORPHA:2050
Jacobsen Syndrome
Short nose, Macrocephaly, Finger syndactyly, Anteverted nares, Toe clinodactyly, Short stature, H... ORPHA:2308
Acrofrontofacionasal Dysostosis
Abnormal epiphysis morphology, Micromelia, Broad thumb, Camptodactyly of finger, Brachydactyly, S... ORPHA:1784
Monosomy 9P
Congenital diaphragmatic hernia, Short nose, Hypospadias, Anteverted nares, Choanal atresia, Hern... ORPHA:261112
Waardenburg Syndrome, Type 1
Hypertelorism, Wide nasal bridge, Underdeveloped nasal alae, Aplasia of the vagina OMIM:193500
Cornelia De Lange Syndrome
Delayed puberty, Short nose, Congenital diaphragmatic hernia, Hypospadias, Hypoplasia of penis, S... ORPHA:199
Autosomal Recessive Faciodigitogenital Syndrome
Short nose, Clinodactyly of the 5th finger, Finger syndactyly, Anteverted nares, Short foot, Shor... ORPHA:1974
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Short ... OMIM:271640
Myhre Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Microcephaly, Intrauterine g... OMIM:139210
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... ORPHA:1788
Neu-Laxova Syndrome 1
Wide nose, Proptosis, Depressed nasal ridge, Camptodactyly, Yellow subcutaneous tissue covered by... OMIM:256520
Achondrogenesis, Type Ii
Short tubular bones of the hand, Disproportionate short-limb short stature, Hypoplastic iliac win... OMIM:200610
Giant Axonal Neuropathy
Abnormal pituitary gland morphology ORPHA:643
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Episodic Ataxia Type 1
Calf muscle hypertrophy, Hand clenching, Myotonia ORPHA:37612
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Hypospadias, Rectovaginal fistula, Primary hypothyroidism, Hypoplastic nipp... OMIM:243800
Machado-Joseph Disease
Proptosis OMIM:109150
17Q11 Microdeletion Syndrome
Delayed puberty, Osteopenia, Elevated circulating parathyroid hormone level, Pheochromocytoma, Pr... ORPHA:97685
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Inguinal hernia, Aplasia of the vagina, Anteverted nares, Aplasia of the uterus, Hypertelorism ORPHA:457284
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Inguinal hernia, Aplasia of the vagina, Aplasia of the uterus, Hypertelorism, Absent external gen... OMIM:271520
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Long nose, Short nose, Depressed nasal bridge, Slender long bone OMIM:618590
Helsmoortel-Van Der Aa Syndrome
Short nose, Decreased response to growth hormone stimulation test, Anteverted nares, Short statur... OMIM:615873
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Proptosis, Short stature, Failure to thrive, Prominent nose, Bul... OMIM:301022
Endocrine-Cerebroosteodysplasia
Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Tibial bowing, Micromelia, Po... OMIM:612651
Roberts-Sc Phocomelia Syndrome
Postnatal growth retardation, Clitoral hypertrophy, Enlarged labia minora, Ankle flexion contract... OMIM:268300
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Short nose, Hypospadias, Inguinal hernia, Hypoplasia of penis, A... ORPHA:373
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short long bone, Brachydactyly, Short stature OMIM:613819
Tibial Hemimelia
Absent tibia OMIM:275220
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Inguinal hernia, Diabetes insipidus, Anteverted nares, Anterior pituitary hypoplasia,... OMIM:619534
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Short stature, Ovarian cyst, Cr... OMIM:614527
Hypokalemic Periodic Paralysis, Type 1
Myotonia, Myopathy OMIM:170400
Isolated Permanent Neonatal Diabetes Mellitus
Lower-limb joint contracture, Pancreatic hypoplasia, Reduced pancreatic beta cells, Failure to th... ORPHA:99885
Arterial Tortuosity Syndrome
Rocker bottom foot, Short nose, Macrocephaly, Clinodactyly of the 5th finger, Coxa vara, Arachnod... ORPHA:3342
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Pulmonary insufficiency, Fibular hypoplasia, Irregular epiphyses, Early o... OMIM:208500
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Short stature, Failure to thrive, Glycosuria, Postprandial hyperglycemia ORPHA:2089
Chromosome 16P13.3 Duplication Syndrome
Short nose, Wide nose, Inguinal hernia, Anteverted nares, Camptodactyly, Cryptorchidism, Hypertel... OMIM:613458
Meacham Syndrome
Blind vagina, Aplasia of the left hemidiaphragm, Bicornuate uterus, Male pseudohermaphroditism, A... OMIM:608978
Pseudoleprechaunism Syndrome, Patterson Type
Delayed pubic bone ossification, Premature adrenarche, Prominent nose, Increased circulating andr... ORPHA:2976
Lipodystrophy, Familial Partial, Type 7
Short nose, Decreased adipose tissue around neck, Narrow nasal ridge, Loss of subcutaneous adipos... OMIM:606721
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Short nose, Narrow naris, Depressed nasal bridge OMIM:122880
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Hypoplasia of the radius, Hypoplasia of the ulna, Elbow flexion ... OMIM:200980
Kosaki Overgrowth Syndrome
Proptosis, Wide nasal bridge, Depressed nasal bridge OMIM:616592
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Peters Plus Syndrome
Postnatal growth retardation, Short nose, Rhizomelia, Hypospadias, Anterior hypopituitarism, Ingu... ORPHA:709
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Trichorhinophalangeal Syndrome, Type Ii
Hydrometrocolpos, Osteopenia, Inguinal hernia, Bilateral cryptorchidism, Growth delay, Recurrent ... OMIM:150230
Ellis-Van Creveld Syndrome
Neonatal short-limb short stature, Genu valgum, Disproportionate short-limb short stature, Delaye... OMIM:225500
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Coronal craniosynostosis, Abnormal dental enamel morphology, Proptosis, Hypospadias ORPHA:85199
Gapo Syndrome
Short nose, Wide anterior fontanel, Anteverted nares, Eruption failure, Growth delay, Micrognathi... OMIM:230740
Liver Disease, Severe Congenital
Hypospadias, Inguinal hernia, Narrow nasal ridge, Pancreatic hypoplasia, Proptosis, Abnormal circ... OMIM:619991
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Gastrointestinal hemorrhage, Abnormal heart morphology, Short 5th finger, Lon... ORPHA:508488
Stickler Syndrome
Short nose, Advanced eruption of teeth, Genu valgum, Abnormal diaphysis morphology, Cachexia, Ant... ORPHA:828
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Micrognathia OMIM:256600
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Elevated circulating creatine kinase concentration, Micromelia, Short phalanx o... OMIM:600092
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Hypothyroidism ORPHA:90065
Molybdenum Cofactor Deficiency, Complementation Group B
Microcephaly, Short nose, Macrocephaly, Growth delay OMIM:252160
Zygomycosis
Nasal congestion, Proptosis, Epistaxis, Cellulitis, Diabetes mellitus, Fasciitis, Osteolysis ORPHA:73263
Gm1-Gangliosidosis, Type Ii
Failure to thrive, Hypoplastic vertebral bodies, Limb undergrowth, Coxa valga OMIM:230600
Acetazolamide-Responsive Myotonia
Skeletal muscle hypertrophy, Myotonia ORPHA:99736
C Syndrome
Short nose, Clinodactyly of the 5th finger, Dislocated radial head, Anteverted nares, Biparietal ... ORPHA:1308
Zttk Syndrome
Short nose, Macrocephaly, Relative macrocephaly, Hypoplasia of the maxilla, Failure to thrive, Sh... OMIM:617140
Craniotubular Dysplasia, Ikegawa Type
Anteverted nares, Proptosis, Short stature, Sclerosis of skull base, Hypertelorism, Wide nasal br... OMIM:619727
Thoracic Dysplasia-Hydrocephalus Syndrome
Abnormal metaphysis morphology, Limb undergrowth ORPHA:1861
Monosomy 9Q22.3
Polydactyly, Large for gestational age, Short nose, Macrocephaly, Delayed eruption of teeth ORPHA:77301
Adams-Oliver Syndrome 1
Imperforate hymen, Supernumerary nipple OMIM:100300
Molybdenum Cofactor Deficiency, Complementation Group A
Microcephaly, Short nose, Macrocephaly, Growth delay OMIM:252150
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Hyperglycemia, Absent gallbladder, Diabetes mellitus, In... OMIM:615710
Myotonia Permanens
Skeletal muscle hypertrophy, Generalized muscle hypertrophy, Myotonia ORPHA:99735
Machado-Joseph Disease Type 1
Proptosis ORPHA:276238
Machado-Joseph Disease Type 2
Proptosis ORPHA:276241
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal shoulder morphology, Short metacarpal, Abnormal pelvic girdle bone morphology, Micromeli... ORPHA:1422
Dend Syndrome
Short nose, Anteverted nares, Clinodactyly of the 4th finger ORPHA:79134
Geleophysic Dysplasia 2
Short nose, Short foot, Short stature, Short palm, Cone-shaped epiphysis OMIM:614185
Congenital Myopathy 17
Failure to thrive in infancy, Proptosis, Distal arthrogryposis OMIM:618975
Charge Syndrome
Hypoplasia of the ulna, Absent radius, Micrognathia, Facial palsy, Absent tibia, Hand monodactyly... OMIM:214800
Osteogenesis Imperfecta, Type X
Genu valgum, Fibular bowing, Rhizomelia, Tibial bowing, Bowing of the long bones, Micromelia, Mic... OMIM:613848
Axenfeld-Rieger Syndrome, Type 3
Hypertelorism, Proptosis, Concave nasal ridge OMIM:602482
Machado-Joseph Disease Type 3
Proptosis ORPHA:276244
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Broad thumb, Mesomelia, Rhizomelia, Brachydactyly ORPHA:171866
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Growth delay, Failure to thrive, Hypoglycemia, Hyperglycemia OMIM:615453
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... OMIM:300373
Hyperparathyroidism, Transient Neonatal
Anteverted nares, Short long bone, Femoral bowing, Metaphyseal spurs, Fractured rib, Short nasal ... OMIM:618188
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Aplasia/Hypoplasia of the radius, Ulnar bowing, Micromelia ORPHA:1765
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Familial Infantile Myoclonic Epilepsy
Proptosis ORPHA:352582
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Mowat-Wilson Syndrome
Bifid scrotum, Septate vagina, Hypospadias, Camptodactyly, Depressed nasal tip, Short stature, Ol... ORPHA:2152
Developmental And Epileptic Encephalopathy 89
Limb undergrowth, Flexion contracture, Microretrognathia, Wide nasal bridge, Talipes equinovarus OMIM:619124
Hypokalemic Periodic Paralysis, Type 2
Myotonia OMIM:613345
Spastic Paraplegia 79B, Autosomal Recessive
Pes cavus, Myotonia, Flexion contracture, Ankle clonus, Pes planus OMIM:615491
Cerebrotendinous Xanthomatosis
Osteopenia, Cholelithiasis, Proptosis, Osteoporosis, Hypothyroidism ORPHA:909
Cranioectodermal Dysplasia 2
Polydactyly, Rhizomelia, Patent foramen ovale, Short ribs, Hypertension, Postaxial hand polydacty... OMIM:613610
Proboscis Lateralis
Cyclopia, External genital hypoplasia, Single naris, Proboscis, Proptosis, Choanal atresia, Hyper... ORPHA:141099
Menke-Hennekam Syndrome 1
Short nose, Inguinal hernia, Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, De... OMIM:618332
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
Duplication Of The Pituitary Gland
Decreased body weight, Abnormal pituitary gland morphology, Short stature, Abnormal hypothalamus ... ORPHA:314621
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hypospadias, Right unicoronal synostosis, Low hanging columella, Bifid scrotum, Camptodactyly, De... ORPHA:261537
Acrocephalopolydactylous Dysplasia
Short nose, Omphalocele, Craniosynostosis, Pancreatic fibrosis, Hypertelorism OMIM:200995
Dural Sinus Malformation
Proptosis ORPHA:97339
Thomsen And Becker Disease
Myotonia ORPHA:614
Peroxisome Biogenesis Disorder 4B
Short nose, Macrocephaly OMIM:614863
Osteogenesis Imperfecta
Abnormal femur morphology, Abnormal hip bone morphology, Dislocated radial head, Femoral bowing, ... ORPHA:666
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Large for gestational age, Hypertelorism, Prominent nasal bridge, Proptosis OMIM:617011
Waldenström Macroglobulinemia
Epistaxis, Proptosis ORPHA:33226
Fanconi-Bickel Syndrome
Rickets, Postnatal growth retardation, Fasting hypoglycemia, Reduced subcutaneous adipose tissue,... OMIM:227810
Ayme-Gripp Syndrome
Short nose, Mandibular prognathia, Camptodactyly, Short stature, Brachydactyly, Radioulnar synost... OMIM:601088
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Aplasia of the uterus, Proptosis, Umbilical hernia, Small scrotu... OMIM:601803
Currarino Syndrome
Septate vagina, Bicornuate uterus, Rectovaginal fistula OMIM:176450
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Thyroiditis, Proptosis, Abnormality... ORPHA:79078
Holoprosencephaly 2
Cyclopia, Hypotelorism, Proboscis, Anterior pituitary agenesis, Diabetes insipidus, Adrenal hypop... OMIM:157170
Cog1-Cdg
Postnatal growth retardation, Rhizomelia, Progressive microcephaly, Short long bone, Flat acetabu... ORPHA:263508
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Short nose, Scarring, Atrophic scars, Arthrogryposis multiplex congenita, Distal arthrogryposis, ... OMIM:601776
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Short nose, Hypoplastic acetabulae, Short fifth metatarsal, Unde... OMIM:134780
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Proptosis, Omphalocele, Failure to thrive, Hyper... OMIM:309350
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Macrocephaly at birth, Short nose, Proportionate shortening of all digits, Flexion contracture of... ORPHA:280633
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short toe, Short phalanx of finger, Micrognathia, Limb undergrowth OMIM:225410
Idiopathic Camptocormia
Fatty replacement of skeletal muscle, Myositis, EMG: myopathic abnormalities, Elevated circulatin... ORPHA:1320
Leukocyte Adhesion Deficiency Type Ii
Lower limb hypertonia, Failure to thrive, Limb undergrowth, Small for gestational age, Overlappin... ORPHA:99843
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Broad toe, Triphalangeal hallux, Shor... OMIM:218330
Acrofacial Dysostosis, Cincinnati Type
Short nose, Retrognathia, Macrocephaly, Clinodactyly of the 5th finger, Bilateral choanal atresia... OMIM:616462
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypospadias, Right unicoronal synostosis, Low hanging columella, Bifid scrotum, Camptodactyly, De... ORPHA:261552
Pyknoachondrogenesis
Short iliac bones, Increased head circumference, Abnormal iliac wing morphology, Short long bone,... ORPHA:3003
Hypoplasminogenemia
Abnormal fallopian tube morphology, Cervicitis, Abnormality of the ovary ORPHA:722
Osteopetrosis, Autosomal Recessive 7
Growth delay, Osteopetrosis, Abnormal trabecular bone morphology, Proptosis OMIM:612301
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Short ribs, Tibial bowing, Short metacarpal, Broad thumb, Pos... OMIM:304120
Williams-Beuren Syndrome
Osteopenia, Short nose, Hypotelorism, Glucose intolerance, Inguinal hernia, Anteverted nares, Ost... OMIM:194050
Igg4-Related Thyroid Disease
Euthyroid goiter, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse goiter, Abnormal pituita... ORPHA:64744
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Necrotizing Enterocolitis
Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis ORPHA:391673
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Hyperglycemia, Truncal obesity, Type II diabetes mellitus OMIM:615812
Aspartylglucosaminuria
Short nose, Abnormal cortical bone morphology, Inguinal hernia, Macroorchidism, Umbilical hernia,... ORPHA:93
Yunis-Varon Syndrome
Severe failure to thrive, Hypospadias, Absent sternal ossification, Anteverted nares, Hypoplastic... OMIM:216340
Williams Syndrome
Osteopenia, Short nose, Cholelithiasis, Hypoplasia of penis, Inguinal hernia, Abnormal dental ena... ORPHA:904
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Narrow nasal bridge, Inguinal hernia, Proptosis, Cigarette-paper sc... ORPHA:286
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Weight loss ORPHA:134
Kinsship Syndrome
Polydactyly, Fibular hypoplasia, Dislocated radial head, Failure to thrive, Micrognathia, Mesomel... OMIM:619297
Penile Agenesis
Short nose, Maternal diabetes, Absent penis, Ambiguous genitalia, Cryptorchidism, Depressed nasal... ORPHA:49
Hydrolethalus
Micrognathia, Postaxial hand polydactyly, Micromelia ORPHA:2189
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Preaxial polydactyly, Short ribs, Micromelia, Postaxial polydact... OMIM:616546
Slc39A8-Cdg
Elbow flexion contracture, Limb undergrowth, Cutaneous syndactyly of toes, Knee flexion contractu... ORPHA:468699
Frontofacionasal Dysplasia
Short nose, Midline defect of the nose, Hypoplasia of the frontal bone, Bifid nose, Underdevelope... OMIM:229400
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Scarring, Inguinal hernia, Proptosis, Convex nasal ridge, Bulbou... OMIM:614437
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Short nose, Macrocephaly, Sandal gap, Prominent nasal tip, Mandibular prognathia, Toe clinodactyl... OMIM:620330
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Inguinal hernia, Pancreatic hypoplasia, Aplasia of the left hemi... OMIM:600001
Meester-Loeys Syndrome
Proptosis, Camptodactyly, Short stature, Joint contracture, Umbilical hernia, Hypertelorism OMIM:300989
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypospadias, Inguinal hernia, Anteverted nares, Failure to thrive, Hyperglycemia, Small for gesta... OMIM:220111
Campomelia, Cumming Type
Clubbing of toes, Bowing of the long bones, Brachydactyly, Micromelia ORPHA:1318
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Wide nose, Proptosis, Coronal craniosynostosis, Short stature, Conve... OMIM:614188
Loeys-Dietz Syndrome 3
Osteopenia, Inguinal hernia, Atrophic scars, Proptosis, Camptodactyly, Osteoporosis, Uterine prol... OMIM:613795
Cherubism
Macular scar, Proptosis OMIM:118400
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Short nose, Equinus calcaneus, Prominent nasal tip, 2-3 toe syndactyly ORPHA:522077
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Short greater sciatic notch, Flared iliac wing, Broad thumb, Short ... OMIM:312870
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Short nose, Slender long bone, Relative macrocephaly, Proportionate short stature, Hypoplasia of ... ORPHA:500150
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Short nose, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rhinitis, Depressed nasal bridg... OMIM:305100
Osteogenesis Imperfecta, Type Vii
Osteopenia, Rhizomelia, Proptosis, Decreased calvarial ossification, Short stature, Dentinogenesi... OMIM:610682
Peters-Plus Syndrome
Bilobate gallbladder, Postnatal growth retardation, Rhizomelia, Hypospadias, Disproportionate sho... OMIM:261540
Viss Syndrome
Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd toe, Proptosis, Hyp... OMIM:619472
Radio-Renal Syndrome
Hypoplasia of the radius, Micromelia, Short palm, Micrognathia, Brachydactyly ORPHA:3015
Stüve-Wiedemann Syndrome
Abnormal metaphysis morphology, Genu valgum, Elbow flexion contracture, Bowing of the long bones,... ORPHA:3206
Cole Disease
Hyperglycemia OMIM:615522
Multiple Mitochondrial Dysfunctions Syndrome 7
Anteverted nares, Hypoglycemia, Hyperglycemia OMIM:620423
Camptodactyly Syndrome, Guadalajara Type 3
Sternocleidomastoid amyotrophy, Broad femoral neck, Thickened cortex of long bones, Small hand, S... ORPHA:488434
Loeys-Dietz Syndrome 2
Inguinal hernia, Proptosis, Camptodactyly, Osteoporosis, Umbilical hernia, Craniosynostosis, Hype... OMIM:610168
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos... ORPHA:79102
Pyruvate Carboxylase Deficiency
Growth delay, Failure to thrive, Hypoglycemia, Hyperglycemia ORPHA:3008
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short nose, Hernia, Flexion contracture ORPHA:505248
Retinoblastoma
Cellulitis, Proptosis, Pineoblastoma ORPHA:790
Loeys-Dietz Syndrome 1
Inguinal hernia, Proptosis, Camptodactyly, Craniosynostosis, Hypertelorism OMIM:609192
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Short ribs, Short metacarpal, Humeroradial synostosis,... ORPHA:3404
Scorpion Envenomation
Glycosuria, Hyperglycemia, Priapism ORPHA:466677
Juvenile Xanthogranuloma
Proptosis ORPHA:158000
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Failure to thrive, Hypoglycemia, Hyperglycemia, Recurrent hypoglycemia OMIM:124000
Dihydropyrimidine Dehydrogenase Deficiency
Epiphyseal dysplasia, Micromelia ORPHA:1675
Tropical Endomyocardial Fibrosis
Cachexia, Proptosis ORPHA:75565
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal metaphysis morphology, Abnormal pelvis bone ossification, Short ribs, Postaxial hand pol... ORPHA:93271
Warburg-Cinotti Syndrome
Underdeveloped nasal alae, Osteolytic defects of the phalanges of the hand, Flexion contracture o... OMIM:618175

Histopathology

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

There is no histopathology data for Ddr2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ddr2.

There are 11 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
DDR2-regulated arginase activity in ovarian cancer-associated fibroblasts promotes collagen production and tumor progression. Oncogene (November 2023) Ddr2tm1d(EUCOMM)Wtsi PMC10786713
Control of craniofacial development by the collagen receptor, discoidin domain receptor 2. eLife (January 2023) Ddr2tm1c(EUCOMM)Wtsi Ddr2tm1b(EUCOMM)Wtsi PMC9977278
The collagen receptor, discoidin domain receptor 2, functions in Gli1-positive skeletal progenitors and chondrocytes to control bone development. Bone research (February 2022) Ddr2tm1a(EUCOMM)Wtsi PMC8828874
Role of Discoidin Domain Receptor 2 in Craniofacial Bone Regeneration. Journal of dental research (April 2021) Ddr2tm1a(EUCOMM)Wtsi PMC8532241
The Role of Discoidin Domain Receptor 2 in Tooth Development. Journal of dental research (December 2019) Ddr2tm1c(EUCOMM)Wtsi Ddr2tm1a(EUCOMM)Wtsi Ddr2tm1b(EUCOMM)Wtsi 31869264
DDR2 controls breast tumor stiffness and metastasis by regulating integrin mediated mechanotransduction in CAFs. eLife (May 2019) Ddr2tm1c(EUCOMM)Wtsi PMC6555593
Randomly Distributed K14+ Breast Tumor Cells Polarize to the Leading Edge and Guide Collective Migration in Response to Chemical and Mechanical Environmental Cues. Cancer research (March 2019) Ddr2tm1d(EUCOMM)Wtsi PMC6467777
Inhibition of tumor-microenvironment interaction and tumor invasion by small-molecule allosteric inhibitor of DDR2 extracellular domain. Proceedings of the National Academy of Sciences of the United States of America (July 2018) Ddr2tm1c(EUCOMM)Wtsi PMC6099886
Selective Role of Discoidin Domain Receptor 2 in Murine Temporomandibular Joint Development and Aging. Journal of dental research (October 2017) Ddr2tm1c(EUCOMM)Wtsi Ddr2tm1a(EUCOMM)Wtsi Ddr2tm1b(EUCOMM)Wtsi 29073363
Discoidin Domain Receptor 2 as a Potential Therapeutic Target for Development of Disease-Modifying Osteoarthritis Drugs. The American journal of pathology (September 2016) Ddr2tm1c(EUCOMM)Wtsi Ddr2tm1a(EUCOMM)Wtsi 27640147
The Action of Discoidin Domain Receptor 2 in Basal Tumor Cells and Stromal Cancer-Associated Fibroblasts Is Critical for Breast Cancer Metastasis. Cell reports (June 2016) Ddr2tm1c(EUCOMM)Wtsi Ddr2tm1a(EUCOMM)Wtsi Ddr2tm1d(EUCOMM)Wtsi Ddr2tm1b(EUCOMM)Wtsi PMC4909540

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MGI Allele Allele Type Produced
Ddr2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ddr2em1(IMPC)Marc Deletion Mice
Ddr2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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