Genitourinary tract diverticuli lead to vesicoureteral reflux and recurrent infections. [rarediseases.info.nih.gov]

infection syndrome STAT3 Hyper-IgE recurrent infection syndrome, autosomal recessive DOCK8 Hypertrophic osteoarthropathy type 1 HPGD Hypertrophic osteoarthropathy type 2 SLCO2A1 Hypochondroplasia FGFR3 Hypophosphatemic rickets with hypercalciuria SLC34A3 [centogene.com]

infection syndrome, autosomal recessive 243700 Mental retardation, autosomal dominant 2 614113 DO L K 9q34.11 Congenital disorder of glycosylation, type Im 610768 D PAGT1 11q23.3 Congenital disorder of glycosylation, type Ij 608093 Myasthenic syndrome [institutobernabeu.com]

The mutation is the same as previously reported in the Turkish pedigree, further confirming that it is causative of disease. [ncbi.nlm.nih.gov]

She had a history of several hospital stays due to bronchiolitis, respiratory insufficiency, spontaneous pneumothorax, and cystitis. She had been previously submitted to four right and one left inguinal herniorrhaphy procedures. [scielo.br]

thrive, developmental delay, dysmorphism, osseous abnormality, and CNS manifestations. [ncbi.nlm.nih.gov]

Infants may experience diminished muscle tone (hypotonia), abnormal fat distribution, feeding difficulties, growth deficiency, and failure to thrive. [rarediseases.org]

[…] to thrive Dermal translucency Micropenis Blue sclerae Thin skin Athetosis Fine hair Narrow nasal ridge Large fontanelles Elbow flexion contracture Cutis laxa Narrow palpebral fissure Glaucoma Posteriorly rotated ears Gingival overgrowth Striae distensae [mendelian.co]

[…] to thrive Microcephaly (small head) Large anterior fontanel (soft spot on the top of the head) Osteopenia (low bone mineral density, but not low enough to be osteoporosis) In addition, CL type 2A and 2B patients often share a similar facial appearance [forgottendiseases.org]

(a) Wrinkled skin folds on face and neck and (b) on hands Click here to view Case 2 A 19-month-old girl presented with developmental delay, failure to thrive and lower limbs length discrepancy with the right limb being 2 cm more than the left limb. [e-ijd.org]

Geroderma osteodysplasticum is a rare autosomal recessive disorder characterized by wrinkled skin on the dorsum of the hands and feet, osteopenia, prognathism, and an elongated and lax face. The mutated gene was identified as GORAB (SCYL1BP1). [ncbi.nlm.nih.gov]

Affected individuals may have distinctive facial features including underdevelopment of the cheeks (malar hypoplasia), a protruding jaw (prognathism), and a prematurely aged appearance. [rarediseases.org]

] Interestingly, type IIA shows phenotypic features very different from those of type IIB, by having a predilection towards neurological dysfunctions and malformations as compared to the latter which displays features such as a progeroid appearance, prognathism [ijpd.in]

Child had dysmorphism in the form of sagging cheeks, maxillary hypoplasia, prognathism, posteriorly placed large and low set ears, hypertelorism, down slanting palpebral fissures, wide open anterior fontanelle, medial epicanthal folds, depressed nose, [idoj.in]

[…] disorder of glycosylation (CDG type II) with CL phenotype and wrinkly skin has been described. [9] GO is characterized by skin wrinkling limited to the dorsum of the hands, feet, and abdomen, osteoporosis with frequent fractures, maxillary hypoplasia, prognathism [e-ijd.org]

He is a professional member of the AHA Council on arteriosclerosis, thrombosis, and vascular biology, and is an elected fellow of the AHA Council on basic cardiovascular sciences. [books.google.ro]

300422 Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 Mental retardation, with or without nystagmus 300422 Non-Hodgkin lymphoma, somatic 605027 CBS 21q22.3 Homocystinuria, B6-responsive and nonresponsive types 236200 Thrombosis [institutobernabeu.com]

Patients have a characteristic facial appearance (down-slanting palpebral fissures, a broad flat nasal bridge and short nose with anteverted nostrils, large ears and a small mouth). The most common ocular anomalies are strabismus and myopia. [orpha.net]

Affected individuals may have distinctive facial features, which can include a beaked nose, an abnormally long groove that runs from the base of the nose to the upper lip (philtrum), a high forehead, and large ears. [rarediseases.org]

Clinical features of this disease include cutis laxa leading to an aged appearance, growth delay, developmental delay, joint and skeletal problems, small head size, large forehead, triangular-shaped face, and large ears. [cutislaxa.pitt.edu]

ears, and microcephaly.[5] Similarly, other ARCL syndromes such as De Barsy Syndrome (type-III ARCL), Wrinkly Skin Syndrome, which also shows mutations in PYCR1 and Geroderma osteodysplastica share phenotypic features to an extent, with different protein [ijpd.in]

Facial characteristics include large ears, a long, coarse face, blepharochalasis, ptosis, a beaked nose and a large philtrum. Note the variability of skin phenotype at different ages. [ojrd.biomedcentral.com]

Geroderma osteodysplasticum is a rare autosomal recessive disorder characterized by wrinkled skin on the dorsum of the hands and feet, osteopenia, prognathism, and an elongated and lax face. The mutated gene was identified as GORAB (SCYL1BP1). [ncbi.nlm.nih.gov]

In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. [monarchinitiative.org]

Mutations in the PYCR1 gene have recently been identified in patients with ARCL2 and in patients with a phenotype (wrinkly skin, osteopenia and progeroid features) overlapping with classic ARCL2 and WSS, and the closely related syndromes, gerodermia osteodysplastica [orpha.net]

The authors described the affected sibs as having 'typical GO features' including a 'droopy' face with deep-set eyes, maxillary hypoplasia, relative mandibular hypoplasia, bowing of the long bones, and frequent fractures due to osteopenia. {2:Guernsey [bio2rdf.org]

Hypotonia (low muscle tone; "floppiness") Intellectual disability (may be more likely to be mild in type 2B patients) Delays in motor development Failure to thrive Microcephaly (small head) Large anterior fontanel (soft spot on the top of the head) Osteopenia [forgottendiseases.org]

[…] clouding-intellectual disability syndrome; De Barsy syndrome Alt IDs: MESH:C535990, ORDO:2962, UMLS_CUI:C0268354 Definition: A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity [informatics.jax.org]

Definition A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental [uniprot.org]

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling [monarchinitiative.org]

Joint hyperlaxity, pseudo-athetoid movements, and hyperreflexia are observed. Inheritance is autosomal recessive ; the gene in which mutation is causative is not known. [ncbi.nlm.nih.gov]

We report on a 4‐year‐old girl with autosomal recessive cutis laxa, type IA, or pulmonary emphysema type (ARCL1A; OMIM #219100), with loose and wrinkled skin, mitral and tricuspid valve prolapse, conjunctivochalasis, obstructed nasolacrimal ducts, hypoplastic [ingentaconnect.com]

aortic aneurysms and pelvic organ prolapse). [books.google.ro]

Congenital cutis laxa with rectal and uterovaginal prolapse 1 Department of Dermatology, Jawaharlal Nehru Medical College, Sawangi, India 2 Department of Dermatology, B. S. [ijdvl.com]

PMID 15269314 Fibulin-5 expression is decreased in women with anterior vaginal wall prolapse. Takacs P, Nassiri M, Viciana A, Candiotti K, Fornoni A, Medina CA. [atlasgeneticsoncology.org]

Electrocardiography showed aortic dilatation, mitral valve prolapsed and sign of pulmonary arterial hypertension. Thoracic computed tomography revealed alveolar condensations and localizations of emphysema. [panafrican-med-journal.com]

Acquired cutis laxa is a rare cutaneous manifestation of hematologic malignancy, particularly plasma cell dyscrasias, including multiple myeloma, monoclonal gammopathy of undetermined significance, and heavy-chain deposition disease. [12, 13, 14] A case [emedicine.medscape.com]

Miceli F, Barrese V, Bellini G, Miraglia del Giudice E, Pascotto A, Bonatti S, Annunziato L, Taglialatela M: Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions [ojrd.biomedcentral.com]

Raby American Journal of Respiratory and Critical Care Medicine (2019) A Golgi-targeted off–on fluorescent probe for real-time monitoring of pH changes in vivo Li Fan, Xiaodong Wang, Jinyin Ge, Feng Li, Caihong Zhang, Bo Lin, Shaomin Shuang & Chuan Dong [nature.com]

Type I autosomal recessive cutis laxa (ARCL1) is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. [malacards.org]

Affected individuals may develop severe breathing difficulties (respiratory distress) associated with cystic changes in the lungs as well as collapse of part of the lung (atelectasis). [rarediseases.org]