Gene Summary

Name:
phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)
Synonyms:
Sofa,  4432409B16Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating aspartate transaminase level Pfasem1(IMPC)J HET   Early adult 5.00×10-05
preweaning lethality, complete penetrance Pfasem1(IMPC)J HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Electroretinography 3

Fundus file

10 Images

X-ray

XRay Images Forepaw

12 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Pfas mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation, Anteverted nares, Depressed nasal ridge,... ORPHA:1355
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
17Q21.31 Microduplication Syndrome
Anteverted nares, Micrognathia, Microcephaly, Synophrys, Malar flattening, Short nose, Failure to... ORPHA:217340
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Microphthalmia, Syndromic 12
Anophthalmia, Congenital diaphragmatic hernia, Broad nasal tip, Micrognathia, Wide nasal bridge, ... OMIM:615524
Rhiny
Short nose, Anteverted nares OMIM:180360
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Underdeveloped nasal alae, Albinism, Synophrys,... OMIM:193510
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Microcephaly, Hypertelorism, Joint hyperflexibility, Short ... ORPHA:1695
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Broad nasal tip, Hypertelorism, Obesity, Macrocephaly, Malar flatte... OMIM:613670
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thick hair, Synophrys, Low posterior hairline, Deeply set eye, Truncal obe... ORPHA:2429
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Microcephaly OMIM:616335
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Cofs Syndrome
Abnormality of retinal pigmentation, Prominent metopic ridge, Camptodactyly of finger, Micrognath... ORPHA:1466
Gombo Syndrome
Microphthalmia, Microcephaly OMIM:233270
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Microcephaly, Arthrogryposis multiplex congenita, Micrognathia OMIM:616570
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Warburg Micro Syndrome 1
Anteverted nares, Micrognathia, Microcephaly, Osteoporosis, Wide nasal bridge, Deeply set eye, Fa... OMIM:600118
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Micrognathia, Microcephaly, Depressed nasal ridge, Mandibular aplasia, Short no... ORPHA:1832
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Thick hair, Abnormal hair pattern, Long eyelashes, Short nose, Generalized h... ORPHA:1514
Absent Eyebrows And Eyelashes With Mental Retardation
Absent eyelashes, Absent eyebrow, Short nose, Convex nasal ridge OMIM:200130
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares, Low posterior hairline ORPHA:1450
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Wide nose, Short nose, Hypertelorism OMIM:125700
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Burn-Mckeown Syndrome
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia ORPHA:1200
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Highly arched eyebrow, Micrognathia, Hypertelorism, Melanocytic nevus, De... ORPHA:261120
Pterygium Colli, Isolated
Short nose, Low posterior hairline OMIM:177990
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Bulbous nose, Synophrys,... ORPHA:411986
Chromosome 3Q29 Duplication Syndrome
Abnormally large globe, Microcephaly, Bulbous nose, Wide nasal bridge, Obesity, Low posterior hai... OMIM:611936
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Oculocerebrocutaneous Syndrome
Alopecia, Anophthalmia, Cleft ala nasi, Congenital hip dislocation, Microphthalmia OMIM:164180
Mmep Syndrome
Mandibular prognathia, Microphthalmia, Microcephaly ORPHA:3434
Meckel Syndrome, Type 8
Anophthalmia, Microcephaly, Depressed nasal ridge, Microphthalmia, Short nose OMIM:613885
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Retrognathia, Microcephaly ORPHA:2528
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Prominent nasal bridge, Microcephaly, Hypoplasia of the maxilla, Patchy ... ORPHA:85279
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Depressed nasal bridge OMIM:155050
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Edinburgh Malformation Syndrome
Failure to thrive, Anteverted nares, Choanal atresia, Joint stiffness, Brushfield spots, Microgna... ORPHA:1895
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Micrognathia ORPHA:2015
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Microphthalmia With Limb Anomalies
Failure to thrive, Anophthalmia, Depressed nasal bridge, Abnormal eyelash morphology, Capitate-ha... OMIM:206920
Intellectual Developmental Disorder, X-Linked 91
Cubitus valgus, Short nose, Obesity, Low posterior hairline OMIM:300577
Cerebrooculofacioskeletal Syndrome 2
Small for gestational age, Camptodactyly of finger, Prominent nose, Micrognathia, Microcephaly, D... OMIM:610756
Chromosome 6Q11-Q14 Deletion Syndrome
Joint laxity, Inguinal hernia, Prominent nasal bridge, Broad nasal tip, Micrognathia, Microcephal... OMIM:613544
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Hypoplasia of the maxilla, Synophrys, Wide nasal bridge, Broad eyebrow OMIM:618302
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Pericallosal lipoma, Broad nasal tip, Bifid nasal tip, Hypoplasia of th... OMIM:136760
Pierpont Syndrome
Joint laxity, Small for gestational age, Wide nasal ridge, Hypertelorism, Abnormal subcutaneous f... ORPHA:487825
Pierpont Syndrome
Wide nose, Broad nasal tip, Microcephaly, Hypertelorism, Deeply set eye, Decreased body weight, M... OMIM:602342
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Anteverted nares, Sparse eyelashes, Concave nail, Abnormality of hair texture, Wool... OMIM:234050
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Cortical sclerosis, Hyp... OMIM:122860
Chung-Jansen Syndrome
Thick eyebrow, Anteverted nares, Micrognathia, Hypertelorism, Synophrys, Obesity, Deeply set eye,... OMIM:617991
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Inguinal hernia, Microcephaly, Flexion contracture, Short nose, Failure to t... OMIM:618379
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Optic nerve hypoplasia, Highly arched eyebrow, Micrognathia, Hypoplasia of... OMIM:620157
Fanconi Anemia, Complementation Group G
Microcephaly, Thrombocytopenia, Neutropenia, Multiple cafe-au-lait spots, Microphthalmia, Leukemi... OMIM:614082
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Wide nasal bridg... ORPHA:2884
Developmental Delay With Variable Neurologic And Brain Abnormalities
Wide nose, Anteverted nares, Micrognathia, Cubitus valgus, Microcephaly, Knee flexion contracture... OMIM:619694
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Underdeveloped nasal alae, Abnormal hai... ORPHA:894
Seckel Syndrome 2
Few cafe-au-lait spots, Microcephaly, Prominent nose, Micrognathia, Microphthalmia OMIM:606744
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Hypoplastic toenails, Hypoplasia of the zygomatic bone, Nail dysplasia, M... ORPHA:2835
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Ulnar deviation of the wrist, Camp... ORPHA:1529
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Lipoatrophy, Micrognathia, Microcephaly, Hypertelorism, Bulbous nose, Wide nasal bridge, Deeply s... ORPHA:261304
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Non-Distal Duplication 13Q
Abnormal fingernail morphology, Micrognathia, Hypoplastic toenails, Abnormal eyelash morphology, ... ORPHA:1702
Trisomy 1Q
Microretrognathia, Omphalocele, Wide nose, Anophthalmia, Depressed nasal bridge, Camptodactyly of... ORPHA:261344
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Microcephaly, ... OMIM:147250
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Failure to thrive, Small for gestational age, Prominent nasal bridge, ... OMIM:214150
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Microcephaly, Prominent nose, Micrognathia OMIM:616171
Melanocytic Nevus Syndrome, Congenital
Congenital giant melanocytic nevus, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short ... OMIM:137550
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Adenylosuccinate Lyase Deficiency
Prominent metopic ridge, Short nose, Anteverted nares, Microcephaly ORPHA:46
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Osteolysis, Broad nasal tip ORPHA:2776
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Temtamy Syndrome
Micrognathia, Joint hyperflexibility, Macrocephaly, Microphthalmia, Convex nasal ridge, Genu varum ORPHA:1777
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Highly arched eyebrow, Hypertelorism, Short nose, Progressive microcephaly ORPHA:438178
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Hypertelorism, Unilambdoid synostos... OMIM:618577
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Relative macrocephaly, Increased bone mineral density, Micrognathia, Shallow orbits, Iris transil... OMIM:617306
Trigonocephaly 1
Omphalocele, Craniosynostosis, Microcephaly, Synophrys, Wide nasal bridge, Hypotelorism, Metopic ... OMIM:190440
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Failure to thrive, Broad nasal tip, Hypertelorism, Overweight, Recurrent u... ORPHA:391372
Fanconi Anemia, Complementation Group S
Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Microcephaly, Hypertelorism,... OMIM:617883
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... OMIM:608612
Mitochondrial Myopathy And Sideroblastic Anemia
Microcephaly, Short nose, Distichiasis, Micrognathia ORPHA:2598
Achondrogenesis
Anteverted nares, Abnormal enchondral ossification, Micrognathia, Abnormality of bone mineral den... ORPHA:932
8Q22.1 Microdeletion Syndrome
Sparse eyelashes, Camptodactyly of finger, Craniosynostosis, Highly arched eyebrow, Hypoplasia of... ORPHA:178303
2Q24 Microdeletion Syndrome
Small for gestational age, Camptodactyly of finger, Hypertelorism, Microphthalmia, Failure to thrive ORPHA:1617
Cockayne Syndrome Type 2
Mandibular prognathia, Anophthalmia, Scarring, Hypermelanotic macule, Delayed eruption of primary... ORPHA:90322
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Depressed nasal ridge, ... ORPHA:1248
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxill... OMIM:601812
Braddock-Carey Syndrome 2
Microphthalmia, Bulbous nose, Retrognathia, Microcephaly OMIM:619981
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Blue irides, Advanced ossificati... OMIM:614613
Linear Skin Defects With Multiple Congenital Anomalies 2
Highly arched eyebrow, Microcephaly, Hypertelorism, Congenital diaphragmatic hernia, Nail dystrop... OMIM:300887
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Small for gestational age, Primary microcephaly OMIM:245570
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Thick eyebrow, Hypoplasia of the maxilla, Bulbous nose, Synophrys, Progressive microcephaly OMIM:618737
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelo... ORPHA:163649
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Anteverted nares, Craniosynostosis, Micrognathia, Hypertelorism, Obesity,... ORPHA:171839
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Hypertelorism, Micrognathia, Wide nasal bridge, Microphthalmia, Decreased skull ossi... ORPHA:93267
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Synophrys DECIPHER:52
Peho-Like Syndrome
Short nose, Retrognathia, Progressive microcephaly OMIM:617507
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nose, Microcephaly, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Abn... ORPHA:2399
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Depressed nasal bridge, Broad nasal tip, Hypertelorism, Wide anterior ... OMIM:619736
20P12.3 Microdeletion Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Macrocephaly, Malar flattening ORPHA:261295
Donnai-Barrow Syndrome
Omphalocele, Depressed nasal bridge, Congenital diaphragmatic hernia, Hypertelorism, Wide anterio... ORPHA:2143
Marshall-Smith Syndrome
Failure to thrive, Anteverted nares, Choanal atresia, Craniosynostosis, Hypertelorism, Increased ... ORPHA:561
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation ORPHA:35612
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Anencephaly 2
Anophthalmia, Bifid nose OMIM:619452
Perlman Syndrome
Inguinal hernia, Anteverted nares, Femoral hernia, Micrognathia, Wide nasal bridge, Deeply set ey... ORPHA:2849
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Hypertelorism, Epiphyseal stippling, P... ORPHA:1914
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Ankle swelling, Micrognathia, Hypoplasia of the maxilla, Wrist swelling, Osteolysis i... OMIM:166300
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent metopic ridge, Failure to thrive, Prominent nasal bridge, Underdeveloped nasal alae, Mi... ORPHA:364577
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Hypertelorism, Multiple lipomas, Macrocephaly, Short nose, Cafe-au-lait spot ORPHA:210548
Sandestig-Stefanova Syndrome
Prominent metopic ridge, Laterally extended eyebrow, Small for gestational age, Highly arched eye... OMIM:618804
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Freckling, Small for gestational age, Microcephaly, Flexion contract... OMIM:601675
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Small for gestational age, Microcephaly OMIM:278780
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Large for gestational age ORPHA:2432
Cerebrooculonasal Syndrome
Anophthalmia, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Abnormal nostril morphology ORPHA:66625
Cerebrooculonasal Syndrome
Anophthalmia, Anteverted nares, Prominent nasal bridge, Proboscis, Optic nerve hypoplasia, Cranio... OMIM:605627
Trisomy 13
Anophthalmia, Abnormal eyelash morphology, Hypotelorism, Aplasia/Hypoplasia of the iris, Deeply s... ORPHA:3378
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Hypoplastic thumbnail, Micrognathia, Hypoplastic toenails, Hypoplastic fifth fi... OMIM:619356
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Depressed nasal bridge, Hypertelorism, Sparse eyebrow, Hypoplasia of the maxi... OMIM:167730
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Capitate-hamate fusion, Radial head subluxation, Wide nasal bridge, Coronal cranios... OMIM:614078
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Abnormal dental enamel morpholog... ORPHA:2180
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Adams-Oliver Syndrome 2
Alopecia, Depressed nasal bridge, Micrognathia, Microcephaly, Bulbous nose, Low anterior hairline... OMIM:614219
Anophthalmia Plus Syndrome
Abnormal nasal morphology, Anophthalmia, Choanal atresia, Hypertelorism ORPHA:1104
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Microcephaly, Camptodactyly of finger, Micrognathia ORPHA:1495
Lowry-Maclean Syndrome
Osteopenia, Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia,... ORPHA:2409
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Osteoporosis of vertebrae, Convex nasal ridge OMIM:156510
Hydrolethalus
Anophthalmia, Micrognathia, Abnormality of the sense of smell, Deeply set eye, Microphthalmia, Re... ORPHA:2189
Joubert Syndrome 37
Prominent metopic ridge, Wide nose, Anteverted nares, Hypertelorism, Wide nasal bridge, Obesity, ... OMIM:619185
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, Prominent nasal bridge, Macrocephaly OMIM:300676
Keipert Syndrome
Depressed nasal bridge, Prominent nasal bridge, Hypoplasia of the maxilla, Aplastic/hypoplastic t... ORPHA:2662
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Microphthalmia, Short nose ORPHA:2547
Fetal Alcohol Syndrome
Anteverted nares, Joint stiffness, Micrognathia, Microcephaly, Biparietal narrowing, Microphthalm... ORPHA:1915
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Craniosynostosis, Microcephaly ORPHA:1528
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Malar prominence, Micrognathia, Osteoporosis, Long eyelashes, Microphtha... ORPHA:48431
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte... OMIM:617201
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Wide nose, Anteverted nares, Small for gestational age, Dorsocervical fat pad, Micr... ORPHA:391408
Trisomy 12P
Supernumerary nipple, Micrognathia, Hypertelorism, Wide nasal bridge, Aplasia/Hypoplasia of the i... ORPHA:1699
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Anteverted nares, Highly arched eyebrow, Micrognathia, Wide anterior fonta... OMIM:619135
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Sparse scalp hair, Anteverted nares, Abnormal fingernail morphology, Hypertelorism, Hypoplastic t... ORPHA:2701
Achondrogenesis Type 1A
Femoral hernia, Anteverted nares, Recurrent fractures, Abnormal enchondral ossification, Microgna... ORPHA:93299
Baraitser-Winter Syndrome 1
Failure to thrive, Anteverted nares, Highly arched eyebrow, Microcephaly, Hypertelorism, Wide nas... OMIM:243310
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Proptosis, Reduced bone mineral density ORPHA:2370
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Microcephaly, Hypertelorism, Obesity, Short nose, Low h... OMIM:617752
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Short nose, Delayed eruption of permanent teeth, Anteverted nares, Microcephaly OMIM:618506
Achondrogenesis Type 1B
Femoral hernia, Anteverted nares, Abnormal enchondral ossification, Micrognathia, Macrocephaly, U... ORPHA:93298
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Failure to thrive, Microcephaly OMIM:274270
17P13.3 Microduplication Syndrome
Wide nose, Congenital hip dislocation, Inguinal hernia, Hypertelorism, Short nose ORPHA:217385
Congenital Varicella Syndrome
Atypical scarring of skin, Microphthalmia, Microcephaly ORPHA:291
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Highly ... ORPHA:1327
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Sparse facial hair, Sparse axillary hair, Hypoplasia of the maxilla, Genu valgum, Dis... OMIM:608154
Manitoba Oculotrichoanal Syndrome
Omphalocele, Anophthalmia, Broad nasal tip, Bifid nasal tip, Hypertelorism, Microphthalmia, Abnor... OMIM:248450
Frontonasal Dysplasia 2
Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r... OMIM:613451
Cutis Laxa, Autosomal Recessive, Type Iia
Inguinal hernia, Congenital hip dislocation, Anteverted nares, Brittle hair, Lipodystrophy, Abnor... OMIM:219200
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Anteverted nares, Microcephaly, Hypertelorism, Retinal pigment epithelial... OMIM:614105
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Wide cranial sutures, Sparse eyelashes, Underdeveloped nasal alae, Lon... OMIM:257850
Potocki-Shaffer Syndrome
Sparse lateral eyebrow, Short nose, Wide nasal bridge, Underdeveloped nasal alae OMIM:601224
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Optic nerve hypoplasia, Prominent nasal bridge, Highly arched eyebrow, Bu... OMIM:618828
Adams-Oliver Syndrome 4
Hypoplastic toenails, Microphthalmia, Umbilical hernia, Toenail dysplasia OMIM:615297
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Joint stiffness, Hypertelorism, Synophrys, Anosmia, Hypopigmented skin patches, Genu valgum, Apla... ORPHA:1295
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Joint laxity, Depressed nasal bridge, Hypertelorism, Progressive macrocephaly, Hernia, Microphtha... OMIM:602501
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Joint laxity, Depressed nasal bridge, Supernumerary nipple, Microcephaly, Sparse eyebrow, Hyperte... OMIM:620098
Smith-Kingsmore Syndrome
Curly hair, Depressed nasal bridge, Hypertelorism, Large for gestational age, Wide anterior fonta... OMIM:616638
Holoprosencephaly
Anophthalmia, Congenital diaphragmatic hernia, Synophrys, Depressed nasal ridge, Hypotelorism, De... ORPHA:2162
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Micrognathia, Hypertelorism, Bulbous nose, Wide nasal bridge, Hypotelorism, Dee... OMIM:613604
Split-Hand/Foot Malformation 3
Microretrognathia, Ridged nail, Hypoplasia of the maxilla, Nail dystrophy, Nail dysplasia, Campto... OMIM:246560
Tetrasomy 12P
Delayed eruption of teeth, Anteverted nares, Cachexia, Hypertelorism, Sparse eyebrow, Joint hyper... ORPHA:884
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Microphthalmia, Abnormality of retinal pigmentation, Microcephaly OMIM:251270
Microphthalmia, Syndromic 8
Mandibular prognathia, Microphthalmia, Microcephaly OMIM:601349
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Acromicric Dysplasia
Abnormal eyebrow morphology, Anteverted nares, Bulbous nose, Long eyelashes, Short nose ORPHA:969
Ring Chromosome 10 Syndrome
Cachexia, Hypertelorism, Micrognathia, Wide nasal bridge, Microphthalmia ORPHA:1438
Cerebrooculofacioskeletal Syndrome 4
Failure to thrive in infancy, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Micr... OMIM:610758
Cockayne Syndrome Type 1
Mandibular prognathia, Anophthalmia, Foot joint contracture, Hypermelanotic macule, Delayed erupt... ORPHA:90321
Acrocephalopolydactyly
Genu recurvatum, Short nose, Depressed nasal ridge, Hypertelorism ORPHA:221054
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal nostril morphology, Hypotelorism, Microcephaly ORPHA:3469
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Frontal balding ORPHA:93945
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Hypopigmented skin patches, Melanocytic nevus, Multip... ORPHA:207
Congenital Disorder Of Glycosylation, Type Iu
Micrognathia, Hypotelorism, Congenital contracture, Secondary microcephaly, Short nose OMIM:615042
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Oculotrichoanal Syndrome
Anophthalmia, Abnormal hair pattern, Hypertelorism, Bifid nasal tip, Microphthalmia ORPHA:2717
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Microcephaly ORPHA:93950
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Hypertelorism, Synophrys, Short nose, Joint hypermobility OMIM:300143
Verheij Syndrome
Joint laxity, Vertebral fusion, Anteverted nares, Optic nerve hypoplasia, Small for gestational a... OMIM:615583
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Anteverted nares, Highly arched eyebrow, Hypoplasia of the maxilla, Absent eye... ORPHA:228396
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Hypop... ORPHA:950
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Failure to thrive, Microcephaly, Hip dislocation, Wide nasal bridge, Buphthalmos, Joi... OMIM:618005
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Wide nose, Brittle hair, Prominent nasal bridge, Hypoplasia of the max... ORPHA:50814
Spinocerebellar Ataxia-Dysmorphism Syndrome
Genu recurvatum, Anteverted nares, Reduced bone mineral density, Joint hyperflexibility, Coarse h... ORPHA:1185
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Depressed nasal bridge, Hypertelorism, Bulbous nose, Bilateral microphthal... ORPHA:369891
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Macrocephaly, Microphthalmia, Short nose, Decreased skull ossification OMIM:300863
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Hypertelorism, Synophrys, Wide nasal bridge, Obesity, Fine hair, Hypoplasia of teet... OMIM:620250
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Unilateral microphthalmos, Osteopetrosis, Macrocephaly, Failure t... OMIM:615085
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Inguinal hernia, Choanal atresia, Hypertelorism, Abnormali... ORPHA:1135
Lujan-Fryns Syndrome
Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Joint h... ORPHA:776
Frontonasal Dysplasia 3
Absent eyebrow, Sparse eyelashes, Underdeveloped nasal alae, Hypertelorism, Wide nasal bridge, Mi... OMIM:613456
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Microcephaly, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum OMIM:302950
Otodental Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Carious teeth, Le... ORPHA:2791
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Micrognathia, Hypertelorism, Malar flattening, Short nose, Convex nasal ridge ORPHA:2145
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Arthrogryposis, Distal, Type 2A
Joint dislocation, Mandibular prognathia, Knee flexion contracture, Deeply set eye, Hernia, Spina... OMIM:193700
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Hypertelorism, Fin... ORPHA:228390
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Micrognathia, Low anterior hairline, Dental malocclusion, Hypotelorism, Contractures ... ORPHA:329178
Teebi Hypertelorism Syndrome 1
Omphalocele, Natal tooth, Depressed nasal bridge, Anteverted nares, Sagittal craniosynostosis, Hi... OMIM:145420
Al-Raqad Syndrome
Joint laxity, Microcephaly, Deeply set eye, Short nose, Hypopigmentation of the skin OMIM:616459
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism, Wide ante... OMIM:618272
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Hypertelorism, Bifid nasal tip, Brushfield spots, Depres... ORPHA:1791
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Congenital hip dislocation, Anteverted nares, Thick hair, Delayed closure of the... ORPHA:357074
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Nail dysplasia, Microcephaly ORPHA:139471
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Macrocephaly ORPHA:397973
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metatarsal osteolysis, Camptodactyly of toe,... OMIM:259600
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Acroosteolysis of distal phalanges (feet), Micrognathia, Abnormal hair morphology, Oste... ORPHA:90154
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Microcephaly, Hypertelorism, Deeply set eye, Sparse hair, Short nose, Hirs... OMIM:618087
Hall-Riggs Syndrome
Delayed eruption of teeth, Anteverted nares, Thick hair, Slow-growing hair, Joint stiffness, Prom... ORPHA:2107
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia, Craniosynostosis, Hypotelorism OMIM:218670
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Microcephaly, Micrognathia, Joint contracture, Short nose OMIM:615419
Bartsocas-Papas Syndrome
Alopecia totalis, Underdeveloped nasal alae, Micrognathia, Hypoplastic toenails, Microcephaly, Po... ORPHA:1234
Microcephaly-Capillary Malformation Syndrome
Wide nose, Small for gestational age, Hypertelorism, Hypoplasia of the maxilla, Abnormal hair who... OMIM:614261
Dysostosis, Stanescu Type
Narrow nasal bridge, Persistent open anterior fontanelle, Increased bone mineral density, Abnorma... ORPHA:1798
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Premature graying of hair, Spars... OMIM:268400
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Failure to thrive in infancy, Microcephaly, Thrombocytopenia... ORPHA:858
Oculodentodigital Dysplasia
Narrow nasal bridge, Dry hair, Anteverted nares, Slow-growing hair, Narrow nose, Underdeveloped n... OMIM:164200
Baraitser-Winter Syndrome 2
Microphthalmia, Retrognathia, Secondary microcephaly, Highly arched eyebrow OMIM:614583
Bainbridge-Ropers Syndrome
Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Dee... OMIM:615485
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Joint hyperflexibility, Short nose, Osteoarthritis ORPHA:90653
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Anteverted nares, Fractured radius, Small for gestational age, Micrognathia, Multiple... OMIM:616897
Congenital Disorder Of Glycosylation, Type Iq
Depressed nasal bridge, Hypertelorism, Abnormality of skin pigmentation, Microphthalmia, Failure ... OMIM:612379
Hypomandibular Faciocranial Dysostosis
Micrognathia, Hypoplasia of the maxilla, Choanal stenosis, Malar flattening, Coronal craniosynost... OMIM:241310
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Camptodactyly of finger, Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Highly ... ORPHA:2083
Nance-Horan Syndrome
Mandibular prognathia, Prominent nasal bridge, Prominent nose, Supernumerary tooth, Microphthalmia ORPHA:627
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Failure to thrive, Sparse eyelashes, Microcephaly, Bifid nasal tip, Sparse eyebrow, Unilateral mi... OMIM:618874
Distal Duplication 18Q
Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Carious teeth, Camptodac... ORPHA:1716
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Micrognathia, Elbow dislocation, Hypertelorism, Patellar dislocation, Mal... ORPHA:93328
Tetrasomy 5P
Pericallosal lipoma, Anteverted nares, Micrognathia, Hypertelorism, Wide anterior fontanel, Wide ... ORPHA:3309
Hartsfield Syndrome
Microphthalmia, Depressed nasal bridge, Craniosynostosis, Hypertelorism ORPHA:2117
Holoprosencephaly 9
Anophthalmia, Depressed nasal bridge, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Micro... OMIM:610829
Monosomy 18P
Alopecia, Micrognathia, Carious teeth, Microcephaly, Wide nasal bridge, Low posterior hairline, M... ORPHA:1598
Pycnodysostosis
Ridged nail, Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypopla... ORPHA:763
Gomez-Lopez-Hernandez Syndrome
Alopecia, Anteverted nares, Craniosynostosis, Hypertelorism, Wide anterior fontanel, Wormian bone... OMIM:601853
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Short nose OMIM:300581
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Hypoplasia of the maxilla, Hip dislocation, Macrocephaly, Malar flattening OMIM:109120
Cohen Syndrome
Bone spicule pigmentation of the retina, Thick eyebrow, Prominent nasal bridge, Micrognathia, Hyp... OMIM:216550
Chromosome 19Q13.11 Deletion Syndrome, Distal
Reduced subcutaneous adipose tissue, Failure to thrive, Inguinal hernia, Anteverted nares, Sparse... OMIM:613026
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Microcephaly, Micrognathia, Hip dislocation, Macrocephaly, Short nose OMIM:241800
X-Linked Dominant Chondrodysplasia Punctata
Abnormally ossified vertebrae, Depressed nasal bridge, Sparse eyelashes, Abnormal hair pattern, H... ORPHA:35173
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Depressed nasal bridge, Craniosynostosis, Macrocephaly, Short nose OMIM:614732
Encephalopathy Due To Sulfite Oxidase Deficiency
Deeply set eye, Short nose, Microcephaly ORPHA:833
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Micrognathia, Microcephaly, Flexion contracture, Osteoporosis, Secondary microcephaly,... OMIM:615851
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Abnormal nasopharynx morphology, Hypertelorism, Wide nasal bridge, Nasal c... OMIM:218400
5Q14.3 Microdeletion Syndrome
Anteverted nares, Optic nerve hypoplasia, Deeply set eye, Short nose, Thick eyebrow ORPHA:228384
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Nablus Mask-Like Facial Syndrome
Depressed nasal bridge, Anteverted nares, Craniosynostosis, Highly arched eyebrow, Hypoplasia of ... OMIM:608156
Craniosynostosis 4
Depressed nasal bridge, Optic nerve hypoplasia, Sagittal craniosynostosis, Hypertelorism, Macroce... OMIM:600775
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypertelorism, Short nose, Depressed nasal bridge, Microcephaly OMIM:616910
Bartsocas-Papas Syndrome 2
Micrognathia, Wide anterior fontanel, Antecubital pterygium, Popliteal pterygium, Microphthalmia,... OMIM:619339
Warburg Micro Syndrome 3
Micrognathia, Microcephaly, Flexion contracture, Low anterior hairline, Ankle clonus, Secondary m... OMIM:614222
Donnai-Barrow Syndrome
Omphalocele, Depressed nasal bridge, Congenital diaphragmatic hernia, Broad nasal tip, Hypertelor... OMIM:222448
Heart And Brain Malformation Syndrome
Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Micro... OMIM:616920
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Primary microcephaly OMIM:615771
Prolidase Deficiency
Depressed nasal bridge, Micrognathia, Hypertelorism, Low posterior hairline, Concave nasal ridge,... OMIM:170100
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Sparse scalp hair, Depressed nasal bridge, Anteverted nares, Highly ar... OMIM:615866
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia OMIM:601809
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Anteverted nares, Hypertelorism, Proptosis, Short nose, Coarse metaphysea... OMIM:618961
Robinow Syndrome, Autosomal Recessive 2
Relative macrocephaly, Ventral hernia, Omphalocele, Anteverted nares, Broad nasal tip, Micrognath... OMIM:618529
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Anteverted nares, Micrognathia, Obesity, Microphthalmia, Synostosis of carpal bones ORPHA:3191
Antley-Bixler Syndrome
Anteverted nares, Recurrent fractures, Choanal atresia, Craniosynostosis, Joint stiffness, Campto... ORPHA:83
Cohen Syndrome
Abnormality of retinal pigmentation, Prominent nasal bridge, Thick hair, Micrognathia, Hypoplasia... ORPHA:193
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Microcephaly, Long ... OMIM:617802
Fetal Trimethadione Syndrome
Depressed nasal bridge, Microcephaly, Micrognathia, Synophrys, Short nose ORPHA:1913
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Anteverted nares, Craniosynostosis, Micrognathia, Elbow dislocation, Hern... ORPHA:93329
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Hypertelorism, Recurrent upper respiratory tract infect... OMIM:614069
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Hypertelorism, Congenital diaphr... OMIM:618774
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ma... OMIM:616367
Microphthalmia, Syndromic 13
Microphthalmia, Microcephaly OMIM:300915
Dermotrichic Syndrome
Short nose, Depressed nasal bridge, Nail dystrophy, Hyperconvex toenail ORPHA:99688
Pfeiffer Syndrome
Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Humero... OMIM:101600
Rapp-Hodgkin Syndrome
Depressed nasal bridge, Sparse eyelashes, Supernumerary nipple, Underdeveloped nasal alae, Hypopl... OMIM:129400
Poikiloderma With Neutropenia
Joint laxity, Depressed nasal bridge, Underdeveloped nasal alae, Joint stiffness, Sparse eyebrow,... OMIM:604173
Smith-Magenis Syndrome
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Delayed eruption of primary teet... ORPHA:819
Proboscis Lateralis
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the maxilla, Anophthalmia, Abnormal location o... ORPHA:141099
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Inguinal hernia, Anophthalmia, Failure of eruption of permanent teeth, Anosmia, Single naris, Abs... ORPHA:2250
Nanophthalmos 4
Microphthalmia OMIM:615972
Micro Syndrome
Abnormality of retinal pigmentation, Anteverted nares, Micrognathia, Joint stiffness, Microcephal... ORPHA:2510
Difference Of Sex Development-Intellectual Disability Syndrome
Abnormal hair pattern, Synophrys, Genu valgum, Reduced bone mineral density, Low posterior hairli... ORPHA:2983
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Hypertrichosis, Amelogenesis imperfecta OMIM:601216
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Medial flaring of the eyebrow, Depressed nasal bridge, Micrognathia, Microcephaly, Hypertelorism,... OMIM:619833
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Oculogastrointestinal Neurodevelopmental Syndrome
Microcephaly, Bilateral microphthalmos, Unilateral microphthalmos, Hirsutism, Low hanging columella OMIM:619318
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar... ORPHA:2412
Hermansky-Pudlak Syndrome 3
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Osteoglosphonic Dysplasia
Inguinal hernia, Anteverted nares, Choanal atresia, Craniosynostosis, Micrognathia, Hypertelorism... ORPHA:2645
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Wide nose, Anophthalmia, Failure to thrive, Abnormal dental ... ORPHA:2556
Fanconi Anemia, Complementation Group J
Multiple cafe-au-lait spots, Microphthalmia, Bone marrow hypocellularity OMIM:609054
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Small for gestational age, Craniosynostosis, Micrognathia, Microcephaly, ... OMIM:614114
Fibular Hemimelia
Joint laxity, Anophthalmia, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitatio... ORPHA:93323
Oculodentodigital Dysplasia
Mandibular prognathia, Brittle hair, Micrognathia, Hypotelorism, Deeply set eye, Sparse hair, Abn... ORPHA:2710
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Microcephaly, M... OMIM:152950
Short Syndrome
Alopecia, Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Hypertelorism, Abnor... ORPHA:3163
Diamond-Blackfan Anemia 8
Short nose, Wide nasal bridge OMIM:612563
Aarskog-Scott Syndrome
Delayed eruption of teeth, Genu recurvatum, Anteverted nares, Camptodactyly of finger, Hypoplasia... ORPHA:915
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Prominent metopic ridge, Small for gestational age, Choanal atresia, M... OMIM:619148
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hyperpigmentation of the skin, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Hypoplas... OMIM:106260
Focal Dermal Hypoplasia
Ridged nail, Linear hyperpigmentation, Cleft ala nasi, Anophthalmia, Congenital hip dislocation, ... OMIM:305600
Muenke Syndrome
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hypertelorism, Hypopigmented ... ORPHA:53271
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Highly arched eyebrow, Progressive microcephaly, Macrocephaly, Advanced e... OMIM:617865
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Prominent nose, Hyp... OMIM:618316
Temtamy Syndrome
Highly arched eyebrow, Micrognathia, Hypertelorism, Hip dislocation, Hypoplasia of teeth, Microph... OMIM:218340
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Optic nerve hypoplasia, Calcaneal epiphyseal stippling, Broad nasal tip, H... ORPHA:79345
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism, Malar flattenin... OMIM:242860
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short nose, Cachexia ORPHA:1389
Even-Plus Syndrome
Highly arched eyebrow, Bifid nasal tip, Synophrys, Depressed nasal ridge, Sparse hair, Short nose OMIM:616854
Desbuquois Dysplasia 1
Joint dislocation, Joint laxity, Microretrognathia, Depressed nasal bridge, Phalangeal dislocatio... OMIM:251450
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Inguinal hernia, Depressed nasal bridge, Abnormal dental enamel morphology, Supernumerary nipple,... ORPHA:1812
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Prominent nasal bridge, Optic nerve hypoplasia, Abnormally large globe, Broad nasal tip, Microgna... OMIM:300749
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Macrocephaly, Advanced eruption of teeth, S... OMIM:614753
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Hypertelorism, Microcephaly, Hip dislocation, Short nose, Failure to thrive OMIM:608776
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Abnormality of retinal pigmentation, Wide nose, Anophthalmia, Anteverted nares, Mic... ORPHA:2526
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Macrocephaly at birth, Microphthalmia ORPHA:324416
Matthew-Wood Syndrome
Anophthalmia, Congenital diaphragmatic hernia, Abnormal spleen morphology, Microphthalmia, Failur... ORPHA:2470
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hypertelorism, Micrognathia, Retrognathia, Short nose, Thick nasal alae ORPHA:163961
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Sparse eyelashes, Micrognathia, Sparse eyebrow, Hypopla... ORPHA:560
Odontochondrodysplasia
Delayed eruption of teeth, Depressed nasal bridge, Joint hyperflexibility, Short nose, Retrognath... ORPHA:166272
14Q24.1Q24.3 Microdeletion Syndrome
Joint laxity, Limited elbow extension and supination, Prominent nasal bridge, Hypertelorism, Syno... ORPHA:401935
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thick eyebrow, Depressed nasal bridge, Micrognathia, Microcephaly, Hypertelorism, Bulbous nose, S... OMIM:617061
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Microcephaly, Deeply set eye, Short nose OMIM:300558
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Hypertelorism, Osteoporosis, Low pos... ORPHA:85194
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
3Q29 Microduplication Syndrome
Craniosynostosis, Microcephaly, Wide nasal bridge, Obesity, Biparietal narrowing, Macrocephaly, A... ORPHA:251038
Intellectual Disability-Strabismus Syndrome
Failure to thrive, Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Highly arched eyeb... ORPHA:363528
Fetal Hydantoin Syndrome
Microcephaly, Hypertelorism, Depressed nasal ridge, Low posterior hairline, Coarse hair, Hernia, ... ORPHA:1912
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Hypertelorism, Microcephaly, Broad nasal tip, Wide nasal bridge, Short nose OMIM:615716
Ohdo Syndrome, X-Linked
Inguinal hernia, Depressed nasal bridge, Prominent nose, Sparse eyebrow, Micrognathia, Bulbous no... OMIM:300895
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Hyperconvex nail, Highly arched eyebrow, Abnormally large globe, Broad nas... OMIM:239300
Mandibulofacial Dysostosis-Microcephaly Syndrome
Micrognathia, Hypoplasia of the maxilla, Secondary microcephaly, Malar flattening, Short nose ORPHA:79113
Pde4D Haploinsufficiency Syndrome
Joint laxity, Mandibular prognathia, Depressed nasal bridge, Abnormal dental enamel morphology, P... ORPHA:439822
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Flexion contracture, Low anterior hairline, Wide nasal bridge, Short nose OMIM:218000
Trichothiodystrophy 3, Photosensitive
Natal tooth, Brittle hair, Carious teeth, Hypotelorism, Microphthalmia, Tiger tail banding, Failu... OMIM:616395
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Wide nose, Depressed nasal ridge, Genu valgum, Short nose ORPHA:2831
Miller-Dieker Syndrome
Short nose, Anteverted nares ORPHA:531
Cardiofaciocutaneous Syndrome
Brittle hair, Biparietal narrowing, Sparse hair, Dystrophic fingernails, Depressed nasal bridge, ... ORPHA:1340
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Hypertelorism, Wide nasal bridge, Proptosis, Secondary microcephaly, Short nose OMIM:618437
Martsolf Syndrome 1
Joint laxity, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the maxilla, Micrognathia, M... OMIM:212720
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Hypertelorism, Deeply set eye, Short nose OMIM:613443
Distal Xq28 Microduplication Syndrome
Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, Microcephaly, Recurrent upper respiratory ... ORPHA:293939
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Bulbous nose, Prominent eyelashes, Secondary microcephaly, Malar flattening, Sh... OMIM:616420
Walker-Warburg Syndrome
Microphthalmia, Macrocephaly, Anophthalmia, Microcephaly ORPHA:899
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Long eyelashes, Macrocephaly, Recurrent patellar dislocation, Microphthalmia OMIM:615877
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Microce... OMIM:614886
Ohdo Syndrome
Joint laxity, Depressed nasal bridge, Anteverted nares, Micrognathia, Sparse eyebrow, Wide nasal ... OMIM:249620
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Sparse hair, Absent eyebrow, D... OMIM:115150
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Warburg Micro Syndrome 2
Prominent nasal bridge, Microcephaly, Flexion contracture, Low anterior hairline, Deeply set eye,... OMIM:614225
Harel-Yoon Syndrome
Mandibular prognathia, Deeply set eye, Short nose, Micrognathia OMIM:617183
Hallermann-Streiff Syndrome
Natal tooth, Alopecia, Sparse eyelashes, Choanal atresia, Tracheomalacia, Micrognathia, Underdeve... ORPHA:2108
Baker-Gordon Syndrome
Prominent nasal tip, Short nose OMIM:618218
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation OMIM:264270
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Tarsal synostosis, Prominent nasal bridge, Hypoplasia of the maxilla, Abnormal... ORPHA:1307
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Short nose, Secondary microcephaly, Primary microcephaly ORPHA:289266
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Anteverted nares, Camptodactyly of finger, Long nose, Bulbous nose, Hypotelori... ORPHA:261211
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Inguinal hernia, Microcephaly, Flexion contracture, Hyperextensibility at wr... ORPHA:544503
Rabin-Pappas Syndrome
Mandibular prognathia, Failure to thrive in infancy, Optic nerve hypoplasia, Highly arched eyebro... OMIM:620155
Curry-Jones Syndrome
Craniosynostosis, Hypertelorism, Hypopigmented skin patches, Microphthalmia, Generalized hirsutism ORPHA:1553
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Prominent nasal bridge, Underdeveloped nas... ORPHA:3440
Ermine Phenotype
Hypopigmentation of hair, Abnormality of the nose, Ocular albinism, Hypopigmented skin patches, I... ORPHA:999
Otopalatodigital Syndrome, Type I
Omphalocele, Delayed closure of the anterior fontanelle, Hypertelorism, Limited knee flexion, Cap... OMIM:311300
Momo Syndrome
Delayed eruption of teeth, Hyperconvex nail, Hypertelorism, Large for gestational age, Bilateral ... ORPHA:2563
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal fingernail morphology, Microcephaly, Hypertelorism, Hyperconvex t... ORPHA:3079
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Large for gesta... OMIM:213980
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Distal Duplication 5Q
Prominent nasal bridge, Craniosynostosis, Micrognathia, Carious teeth, Microcephaly, Hyperteloris... ORPHA:96097
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Small for gestational age, Micrognathia, Microcephaly, Recurrent uppe... ORPHA:3078
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Anteverted nares, Slow-growing hair, Hypoplasia of the maxilla... ORPHA:238468
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Narrow nasal bridge, Hyperextensibility of the finger joints, Joint laxity, Prominent nasal bridg... OMIM:309520
Vacterl With Hydrocephalus
Inguinal hernia, Anophthalmia, Femoral hernia, Micrognathia, Hip dislocation, Microphthalmia, Ret... ORPHA:3412
Incontinentia Pigmenti
Ridged nail, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic, patchy alopeci... OMIM:308300
Moebius Syndrome
Abnormal nasopharynx morphology, Depressed nasal bridge, Micrognathia, Hypertelorism, Camptodacty... OMIM:157900
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Microceph... OMIM:300534
Toluene Embryopathy
Microcephaly, Micrognathia, Hypoplasia of the zygomatic bone, Biparietal narrowing, Short nose ORPHA:1920
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Prominent metopic ridge, Depressed nasal bridge, Microcephaly, Bulbous nos... ORPHA:261144
Warburg Micro Syndrome 4
Anteverted nares, Prominent nasal bridge, Flexion contracture, Low anterior hairline, Deeply set ... OMIM:615663
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Hypertelorism, Bulbous nose, Wide nasal bridge, Horizontal eyebrow, Microphtha... OMIM:618571
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Atelosteogenesis, Type Iii
Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Flat acetabul... OMIM:108721
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Broad eyebrow, Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Flexion contracture, Hi... ORPHA:481152
Cockayne Syndrome B
Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the ... OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Flexion contracture, Microcephaly OMIM:613155
Macrocephaly/Autism Syndrome
Joint laxity, Lymphopenia, Depressed nasal bridge, Large for gestational age, Splenomegaly, Obesi... OMIM:605309
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Thick eyebrow, Anteverted nares, Hypertelorism, Flexion contracture, Wide na... OMIM:619383
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla, Low anterior hairline, Coronal craniosynostosis, Coarse hair, Aplasia/... ORPHA:2095
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microcephaly, Micrognathia, Ocular albinism, Wide nasal bridge, Microphthalmia ORPHA:1352
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Depressed nasal bridge, Patchy osteosclerosis, Micrognathia, Microcephaly, Microphthalmia, Convex... OMIM:241410
Fraser Syndrome 1
Absent eyebrow, Wide nose, Cleft ala nasi, Depressed nasal bridge, Anophthalmia, Underdeveloped n... OMIM:219000
Multiple Benign Circumferential Skin Creases On Limbs
Inguinal hernia, Microcephaly, Micrognathia, Umbilical hernia, Microphthalmia, Irregular hyperpig... ORPHA:2505
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Acrofacial Dysostosis, Catania Type
Microretrognathia, Abnormal hair pattern, Microcephaly, Carious teeth, Coarse hair, Hypoplasia of... ORPHA:1786
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Malar flattening, Convex nasal ridge, Choanal atresia ORPHA:93262
Marden-Walker Syndrome
Inguinal hernia, Anteverted nares, Micrognathia, Microcephaly, Wide anterior fontanel, Hypertelor... OMIM:248700
Temtamy Preaxial Brachydactyly Syndrome
Proximal radio-ulnar synostosis, Tarsal synostosis, Abnormally large globe, Hypoplasia of the max... ORPHA:363417
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, Hypertelorism, Elbow dislocation, Hip dislocation, Radioulnar ... ORPHA:3258
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Inguinal hernia... OMIM:608022
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Anophthalmia, Prominent nasal bridge, Broad nasal tip, Bifid nasal tip... OMIM:300166
Microphthalmia, Isolated 5
Microphthalmia, Bone spicule pigmentation of the retina OMIM:611040
3Q29 Microdeletion Syndrome
Prominent nasal bridge, Microcephaly, Abnormality of skin pigmentation, Joint hyperflexibility, M... ORPHA:65286
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Hypertelorism, Deeply set eye, ... ORPHA:357001
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Short nose, Depressed nasal ridge, Micrognathia ORPHA:163966
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Deeply set eye, Short nose ORPHA:496790
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the iris, Depressed nasal bridge, Wide nasal bridge ORPHA:782
Microphthalmia, Syndromic 9
Inguinal hernia, Anophthalmia, Congenital diaphragmatic hernia, Micrognathia, Bilateral microphth... OMIM:601186
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Anophthalmia, Camptodactyly of finger, Hypoplasia of the maxilla, Aniridia ORPHA:1101
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microcephaly, Flexion contracture, Decreased body weight, Microphthalmia OMIM:614833
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Choanal atresia, Abnormal hair morphology, Bilateral microphthalmos, Depr... OMIM:607597
Myoclonic-Astatic Epilepsy
Anteverted nares, Frontal balding, Microcephaly, Wide nasal bridge, Microphthalmia, Thick nasal alae ORPHA:1942
Chromosome 1Q41-Q42 Deletion Syndrome
Depressed nasal bridge, Anteverted nares, Supernumerary nipple, Broad nasal tip, Sparse eyebrow, ... OMIM:612530
Geroderma Osteodysplasticum
Mandibular prognathia, Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, ... OMIM:231070
Cat-Eye Syndrome
Microphthalmia, Hypertelorism ORPHA:195
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla, Overhanging nasal tip, Nail dysplasia, Genu valgum OMIM:619142
Obesity And Hypopigmentation
Red hair OMIM:620195
Microcephaly-Micromelia Syndrome
Wide nose, Craniosynostosis, Micrognathia, Microcephaly, Humeroradial synostosis, Microphthalmia,... OMIM:251230
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Deeply set eye, Concave nasal ridge, Malar flattening, ... OMIM:613038
Jaberi-Elahi Syndrome
Brittle hair, Depressed nasal bridge, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Microcep... OMIM:617988
Codas Syndrome
Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bridge, Anteverted nares, ... ORPHA:1458
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Microcephaly, Thrombocytopenia, Splenomegaly, Aplasia/Hypopl... ORPHA:290
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypertelorism, Hypoplasia of t... ORPHA:1134
Peho Syndrome
Short nose, Retrognathia, Progressive microcephaly OMIM:260565
Angelman Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Blue irides, Secondary microcephaly, Fair hair,... OMIM:105830
Bresek Syndrome
Alopecia, Optic nerve hypoplasia, Microcephaly, Microphthalmia, Convex nasal ridge ORPHA:85284
Ruvalcaba Syndrome
Inguinal hernia, Microcephaly, Abnormality of the elbow, Hypopigmented skin patches, Generalized ... ORPHA:3121
Biemond Syndrome Type 2
Microphthalmia, Obesity ORPHA:141333
Desmosterolosis
Relative macrocephaly, Hypoplastic nasal bridge, Failure to thrive, Anteverted nares, Micrognathi... OMIM:602398
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Inguinal hernia, Micrognathia, Lens coloboma, Joint contracture of the 4th... OMIM:618914
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Depressed nasal bridge, Absent nipple, Sparse eyelashes, Underdevel... OMIM:305100
Nance-Horan Syndrome
Prominent nasal bridge, Prominent nose, Mulberry molar, Supernumerary maxillary incisor, Micropht... OMIM:302350
Bent Bone Dysplasia Syndrome 1
Natal tooth, Abnormally large globe, Micrognathia, Hypertelorism, Decreased calvarial ossificatio... OMIM:614592
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Joint laxity, Persistent open anterior fontanelle, Inguinal hernia, Hypertelorism, Atrophic scars... OMIM:615539
Osteoglophonic Dysplasia
Osteopenia, Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Depressed nasal br... OMIM:166250
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Inguinal hernia, Anteverted nares, Hyperte... OMIM:305400
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Micrognathia, Underdeveloped nasal alae, Hypertelorism, Propto... ORPHA:264200
Squalene Synthase Deficiency
Depressed nasal bridge, Optic nerve hypoplasia, Failure to thrive in infancy, Micrognathia, Elbow... OMIM:618156
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Hyperconvex nail, Prominent nasal bridge, Short nose OMIM:613870
8P23.1 Microdeletion Syndrome
Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia, Microcephaly, Wide nasal b... ORPHA:251071
Holoprosencephaly 7
Omphalocele, Hypoplasia of the premaxilla, Flat nasal alae, Microcephaly, Hypertelorism, Synophry... OMIM:610828
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Depressed nasal bridge, Anteverted nares, Small for gestational age, Delayed epiphysea... OMIM:613320
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Anteverted nares, Highly arched eyebrow, Microcephaly, Hypertelorism, Synophrys, Wide nasal bridg... OMIM:614701
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Convex nasal ridge ORPHA:1540