Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

There wasminimaldorsilumbar scoliosis and anemia (hemoglobin, 10.7 g/dl).Our patient has sagittal craniosynostosis with ventriculardilatation, ventricular septal defect, postnatal growth failure,developmental delay, and renal agenesisfindings suggestiveof [vdocuments.mx]

There wasminimaldorsilumbar scoliosis and anemia (hemoglobin, 10.7 g/dl).Our patient has sagittal craniosynostosis with ventricular dilatation, ventricular septal defect, postnatal growth failure,developmental delay, and renal agenesisfindings suggestiveof [docslide.net]

delay (growth retardation and intellectual deficit).Clinical descriptionGenital and renal anomalies, and various dysmorphic features (hypertelorism, low set ears, dysplastic ears, micrognathia, mandibular ankylosis, syndactyly) may be present. [malacards.org]

LISSENCEPHALY, X-LINKED, 1; LISX1 Is also known as xlis, lissencephaly and agenesis of corpus callosum Related symptoms: Intellectual disability Seizures Global developmental delay Microcephaly Ataxia SOURCES: OMIM MONDO More info about LISSENCEPHALY, [mendelian.co]

Growth delay Growth deficiency, Delayed growth, Growth retardation, Growth failure, Retarded growth, Very poor growth [more] A deficiency or slowing down of growth pre- and postnatally. [rarediseases.oscar.ncsu.edu]

growth Retarded growth [ more ] 0001510 Microphallus 0030260 Trismus Lockjaw 0000211 Showing of 38 Last updated: 3/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

[…] deficiency Prolymphocytic leukemia Properdin deficiency Prosencephaly cerebellar dysgenesis Prostaglandin antenatal infection Prostate cancer, familial Prostatic malacoplakia associated with prostatic abscess Prostatitis Protein C deficiency Protein-energy malnutrition [bionity.com]

Prolymphocytic leukemia Properdin deficiency Prosencephaly cerebellar dysgenesis Prosopamnesia Prostaglandin antenatal infection Prostate cancer, familial Prostatic malacoplakia associated with prostatic abscess Prostatitis Protein C deficiency Protein–energy malnutrition [sosu.us]

All three patients shared features that included growth and developmental retardation, sagittal synostosis, hypertelorism, low set ears, micrognathia with mandibular ankylosis, congenital heart defects, and genital anomalies. [ncbi.nlm.nih.gov]

[…] with suspected mendelian basis notation 218450 OMIM Entry Type 0 OMIM MimType Value none prefLabel CRANIOSTENOSIS, SAGITTAL, WITH CONGENITAL HEART DISEASE, MENTAL DEFICIENCY, AND MANDIBULAR ANKYLOSIS tui T047 [bioportal.bioontology.org]

To the Editor:Pfeiffer type cardiocranial syndrome is a rare craniosynos-tosis syndrome, which includes sagittal synostosis, congenitalheart defects, micrognathia, mandibular ankylosis, growthdeficiency, developmental retardation, microphallus, crypt-orchidism [vdocuments.mx]

Source MeSH Abnormalities, Multiple Adult Craniosynostoses Cryptorchidism Diseases in Twins Female Foot Deformities, Congenital Hand Deformities, Congenital Heart Defects, Congenital Humans Infant, Newborn Intellectual Disability Male Twins, Dizygotic [unboundmedicine.com]

[…] telangiectatica congenita Chondrocalcinosis 2 Plagiocephaly and X-linked mental retardation Paroxysmal nocturnal hemoglobinuria Osteopetrosis autosomal recessive 3 Complement component 2 deficiency Loeys-Dietz syndrome type 4 CHARGE syndrome Hand and foot [checkrare.com]

All three patients shared features that included growth and developmental retardation, sagittal synostosis, hypertelorism, low set ears, micrognathia with mandibular ankylosis, congenital heart defects, and genital anomalies. [ncbi.nlm.nih.gov]

A patient is described with features of this condition including sagittal suture synostosis, growth retardation, learning difficulties, hypertelorism, low-set ears, micrognathia, congenital heart defects and genital anomalies. [journals.lww.com]

The craniosynostosis was present in only one of the sibs, suggesting intrafamilial variability of the syndrome. [ncbi.nlm.nih.gov]

The aetiology of this condition remains unknown although an autosomal recessive pattern of inheritance has been suggested following the description of sib pairs. [journals.lww.com]

We report a male patient with over-lapping features of both syndromes and suggest that thetwo syndromes may be variable manifestations of a singledisorder.The propositus is the second child of nonconsanguineousparents, aged 30 (mother) and 35 (father) [vdocuments.mx]

We report a male patient with over-lapping features of both syndromes and suggest that thetwo syndromes may be variable manifestations of a singledisorder.The propositus is the second child of nonconsanguineous parents, aged 30 (mother) and 35 (father [docslide.net]

Additional findings not re- lated to the abnormal head growth include micrognathia with limited mouth opening, tracheobronchial anomalies, congenital heart defects, microphallus, cryptorchidism, and growth and mental retardation. [docslide.us]

To the Editor:Pfeiffer type cardiocranial syndrome is a rare craniosynos-tosis syndrome, which includes sagittal synostosis, congenitalheart defects, micrognathia, mandibular ankylosis, growthdeficiency, developmental retardation, microphallus, crypt-orchidism [vdocuments.mx]

To the Editor: Pfeiffer type cardiocranial syndrome is a rare craniosynos-tosis syndrome, which includes sagittal synostosis, congenitalheart defects, micrognathia, mandibular ankylosis, growthdeficiency, developmental retardation, microphallus, crypt-orchidism [docslide.net]

In addition to craniosynostosis involving the sagittal suture, micrognathia with limited mouth opening, tracheobronchial anomalies, congenital heart defects, microphallus, cryptorchidism, and growth and mental retardation were features. [omim.org]

[…] tracheobronchial morphology 0005607 Abnormality of cardiovascular system morphology 0030680 Autosomal recessive inheritance 0000007 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Microphallus [rarediseases.info.nih.gov]

A patient is described with features of this condition including sagittal suture synostosis, growth retardation, learning difficulties, hypertelorism, low-set ears, micrognathia, congenital heart defects and genital anomalies. [ncbi.nlm.nih.gov]

Testicular self-examination: the person with learning difficulties. Br J Nurs, 16, 931 –5. Pedersen, A. M. and Skovby, F. ( 2007 ). Molecular diagnosis of CHARGE syndrome. Ugeskr Laeg, 169, 402 –6. Pela, I., Donati, M. [cambridge.org]