NORD^® Rare Disease Database

short stature-craniofacial anomalies-genital hypoplasia syndrome

Also known as: Haspeslagh syndrome, Haspeslagh-Fryns-Muelenaere syndrome, pterygia intellectual disability facial dysmorphism, pterygia mental retardation facial dysmorphism, pterygia, intellectual disability and distinctive craniofacial features, pterygia, intellectual disability, and distinctive craniofacial features, pterygia, mental retardation and distinctive craniofacial features, pterygia, mental retardation, and distinctive craniofacial features

craniofacial dyssynostosis

Also known as: bilateral lambdoid and sagittal synostosis, craniofacial dyssynostosis and short stature, craniofacial dyssynostosis with short stature, craniosynostosis-craniofacial dysostosis syndrome

mullerian duct anomalies-limb anomalies syndrome

Also known as: Müllerian duct anomalies-limb anomalies syndrome, hypomelia mullerian duct anomalies, hypomelia with mullerian duct anomalies, limb uterus syndrome, limb-uterus syndrome, severe upper limb hypoplasia and Mullerian duct anomalies

craniofacial-deafness-hand syndrome

Also known as: CDHS, Sommer-Young-Wee-Frye syndrome, craniofacial deafness hand syndrome, craniofacial-deafness-hand syndrome, features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss

Larsen-like syndrome, B3GAT3 type

Also known as: JDSCD, Larsen syndrome, autosomal recessive, Larsen syndrome, autosomal recessive, formerly, multiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects, multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, multiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects, multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome

temtamy syndrome

Also known as: Dysmorphism, corpus callosum agenesis and colobomas, TEMTAMY syndrome, TEMTYS, Temtamy-Shalash syndrome, craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation, craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome, intellectual disability with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum, mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum, temtamy syndrome

multiple congenital anomalies-hypotonia-seizures syndrome 1

Also known as: MCAHS1, PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability, PIGN-CDG, PIGN-related inherited GPI deficiency, congenital disorder of glycosylation due to PIGN deficiency, glycosylphosphatidylinositol biosynthesis defect 3, inherited GPI anchor-deficiency, multiple congenital anomalies - hypotonia - seizures syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, multiple congenital anomalies-hypotonia-seizures syndrome 1, multiple congenital anomalies-hypotonia-seizures syndrome type 1, multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN

microphthalmia with brain and digit anomalies

Also known as: Bakrania-Ragge syndrome, MCOPS6, anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia, anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia, microphthalmia and pituitary anomalies, microphthalmia syndromic 6, microphthalmia with brain and digit anomalies, microphthalmia with brain and digit developmental anomalies, microphthalmia, syndromic 6, microphthalmia, syndromic type 6, syndromic microphthalmia type 6

immunodeficiency-centromeric instability-facial anomalies syndrome 3

Also known as: CDCA7 immunodeficiency-centromeric instability-facial anomalies syndrome, ICF syndrome 3, ICF3, immunodeficiency-centromeric instability-FACIAL anomalies syndrome 3, immunodeficiency-centromeric instability-Facial anomalies syndrome 3, immunodeficiency-centromeric instability-Facial anomalies syndrome type 3, immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in CDCA7, immunodeficiency-centromeric instability-facial anomalies syndrome type 3

immunodeficiency-centromeric instability-facial anomalies syndrome 4

Also known as: HELLS immunodeficiency-centromeric instability-facial anomalies syndrome, ICF syndrome 4, ICF4, immunodeficiency-centromeric instability-FACIAL anomalies syndrome 4, immunodeficiency-centromeric instability-Facial anomalies syndrome 4, immunodeficiency-centromeric instability-Facial anomalies syndrome type 4, immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS, immunodeficiency-centromeric instability-facial anomalies syndrome type 4

cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

Also known as: cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome, hyaluronidase 2 deficiency

multiple congenital anomalies-hypotonia-seizures syndrome 2

Also known as: DEE20, GPIBD4, MCAHS type 2, MCAHS2, PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability, developmental and epileptic encephalopathy 20, epileptic encephalopathy, early infantile, 20, glycosylphosphatidylinositol biosynthesis defect 4, multiple congenital anomalies-hypotonia-seizures syndrome 2, multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive, multiple congenital anomalies-hypotonia-seizures syndrome type 2, multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA

immunodeficiency-centromeric instability-facial anomalies syndrome 2

Also known as: ICF syndrome 2, ICF2, ZBTB24 immunodeficiency-centromeric instability-facial anomalies syndrome, immunodeficiency-centromeric instability-Facial anomalies syndrome type 2, immunodeficiency-centromeric instability-facial anomalies syndrome 2, immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in ZBTB24, immunodeficiency-centromeric instability-facial anomalies syndrome type 2

linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies

immunodeficiency-centromeric instability-facial anomalies syndrome 1

Also known as: DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome, ICF syndrome 1, ICF1, centromeric instability, immunodeficiency syndrome, immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16, immunodeficiency syndrome, variable, immunodeficiency-centromeric instability-Facial anomalies syndrome type 1, immunodeficiency-centromeric instability-facial anomalies syndrome 1, immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in DNMT3B, immunodeficiency-centromeric instability-facial anomalies syndrome type 1

multiple congenital anomalies-hypotonia-seizures syndrome 3

Also known as: LFSS, M syndrome, MCAHS type 3, MCAHS3, PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability, PIGT-CDG, congenital disorder of glycosylation due to PIGT deficiency, glycosylphosphatidylinositol biosynthesis defect 7, intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome, light fixation seizure syndrome, multiple congenital anomalies-hypotonia-seizures syndrome 3, multiple congenital anomalies-hypotonia-seizures syndrome type 3, multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT

craniofacial conodysplasia

lethal occipital encephalocele-skeletal dysplasia syndrome

Also known as: RHFCA, craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, radiohumeral fusions with other skeletal and craniofacial anomalies

XY type gonadal dysgenesis-associated anomalies syndrome

Also known as: gonadal dysgenesis XY type associated anomalies, gonadal dysgenesis, 10Y type, with associated anomalies, gonadal dysgenesis, XY type, with associated anomalies

linear skin defects with multiple congenital anomalies 2

Also known as: COX7B microphthalmia with linear skin defects syndrome, LSDMCA2, aplasia cutis congenita, Reticulolinear, with microcephaly, Facial Dysmorphism, and Other congenital anomalies, linear skin defects with multiple congenital anomalies 2, linear skin defects with multiple congenital anomalies 2, X-linked dominant, linear skin defects with multiple congenital anomalies type 2, microphthalmia with linear skin defects syndrome caused by mutation in COX7B

linear skin defects with multiple congenital anomalies 3

Also known as: LSDMCA3, NDUFB11 microphthalmia with linear skin defects syndrome, linear skin defects with cardiomyopathy and Other congenital anomalies, linear skin defects with multiple congenital anomalies 3, linear skin defects with multiple congenital anomalies 3, X-linked dominant, linear skin defects with multiple congenital anomalies type 3, microphthalmia with linear skin defects syndrome caused by mutation in NDUFB11

Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome

Also known as: WAGR syndrome with obesity, WAGRO, Wagro syndrome, Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome, Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome, Wilms tumor-aniridia-genitourinary anomalies-intellectual disability-obesity syndrome, Wilms tumor-aniridia-genitourinary anomalies-mental retardation-obesity syndrome, chromosome 11P13-p12 deletion syndrome

neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome

Also known as: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome

mitochondrial DNA depletion syndrome 13

Also known as: BXL4-related early-onset mitochondrial encephalopathy, FBXL4 deficiency, FBXL4 mitochondrial DNA depletion syndrome, FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome, MTDPS13, encephalomyopathic mitochondrial DNA depletion syndrome-13, mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), mitochondrial DNA depletion syndrome caused by mutation in FBXL4, mitochondrial DNA depletion syndrome type 13, mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies, mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

Feingold syndrome type 1

Also known as: Brunner-Winter syndrome type 1, FGLDS1, FS1, Feingold syndrome, Feingold syndrome 1, Feingold syndrome caused by mutation in MYCN, Feingold syndrome type 1, MMT type 1, MODED syndrome type 1, MYCN Feingold syndrome, Mmt syndrome, ODED syndrome type 1, Oded syndrome, digital anomalies with short palpebral fissures and atresia of esophagus or duodenum, digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1, digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum, digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum type 1, microcephaly and digital abnormalities with normal intelligence, microcephaly, intellectual disability, and tracheoesophageal fistula syndrome, microcephaly, mental retardation, and tracheoesophageal fistula syndrome, microcephaly-digital anomalies-normal intelligence syndrome type 1, microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1, microcephaly-oculo-digito-esophageal-duodenal syndrome, microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1, oculo-digito-esophageal-duodenal syndrome type 1, oculodigitoesophagoduodenal syndrome