Examination showed the presence of proportionate short stature, height measuring 73 cm (<3rd centile), weight 10 kg (<3rd centile), and head circumference 47 cm (at 3rd centile). [hindawi.com]

Kostmann disease Short stature, developmental delay, and congenital heart defects Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Sialic acid storage disorder, infantile (ISSD) Smith Lemli Opitz syndrome Spastic ataxia 2, Autosomal [zerlaboratories.com]

[…] coenzyme Q10 deficiency Coffin-Lowry syndrome Coffin-Siris syndrome COG5-CDG, see COG5-congenital disorder of glycosylation COG5-congenital disorder of glycosylation Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short [medlineplus.gov]

N Engl J Med 327: 1789–1792 CAS Google Scholar 79 Frydman M, Etzioni A, Eidlitz-Markus T, Avidor I, Varsano I, Shechter Y, Orlin JB, Gershoni-Baruch R 1992 Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility [nature.com]

infection syndrome, autosomal recessive Hyperinsulinemic hypoglycemia, familial, 1 (PHHI/HHF1) Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome Hyperoxaluria, primary, type I Hyperoxaluria, primary, type II Hyperoxaluria, primary, type III [zerlaboratories.com]

Fucose therapy can be beneficial in treating recurrent infections associated with this form of CDG and improving health. However, fucose therapy does not help with other symptoms of this disorder. [rarediseases.org]

Midface retrusion MedGen UID: 388629 •Concept ID: C2673410 • Finding Recurrent respiratory infections MedGen UID: 812812 •Concept ID: C3806482 • Finding An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory [ncbi.nlm.nih.gov]

Failure to thrive MedGen UID: 746019 •Concept ID: C2315100 • Disease or Syndrome Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. [ncbi.nlm.nih.gov]

They may have problems feeding and difficulty growing and gaining weight at the expected rate (failure to thrive). [malacards.org]

Feeding difficulties leading to failure to thrive are also common. Failure to thrive is defined as the failure to grow and gain weight as would be expected based upon age and gender. [rarediseases.org]

Failure to thrive is often an early source of concern. [nature.com]

Pediatrics 130:e1034–e1039 Article PubMed Google Scholar Morava E, Tiemes V, Thiel C et al (2016) ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavior and limb anomalies. [link.springer.com]

Sensorineural hearing loss MedGen UID: 9164 •Concept ID: C0018784 • Disease or Syndrome A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. [ncbi.nlm.nih.gov]

Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. [malacards.org]

Psychomotor retardation MedGen UID: 98405 •Concept ID: C0424230 • Finding Abnormally slow physical movement. Abnormal facial shape MedGen UID: 98409 •Concept ID: C0424503 • Finding An abnormal morphology (form) of the face or its components. [ncbi.nlm.nih.gov]

retardation and characteristic facies 2 (HPFR2) Hypotonia-cystinuria syndrome Ichthyosis, congenital, Autosomal Recessive 1 Ichthyosis, congenital, Autosomal Recessive 4A Immunodeficiency, common variable, 8, with autoimmunity Immunodeficiency-centromeric [zerlaboratories.com]

LAD II, first identified in 1992 (78), is characterized from infancy by recurrent bacterial infections, failure to thrive, deficient physical growth, microcephaly and moderate psychomotor retardation. The face is mildly dysmorphic. [nature.com]

In this issue Table of Contents Jump to section Article Abstract Education Gaps Objectives Introduction Classification Nomenclature Clinical Presentation Diagnosis Management Conclusions Footnotes Suggested Reading Info & Metrics Comments Related Articles [neoreviews.aappublications.org]

Cryptorchidism can be subclassified by the location of the maldescended testis. [ncbi.nlm.nih.gov]

Presence of congenital heart defects, genitourinary anomalies such as hydronephrosis, hypospadias, cryptorchidism, hypoplastic clitoris, and labia majora, and structural brain malformations may alter the prognosis [2]. [hindawi.com]