Of note, the PDA in Cantú syndrome is frequently described as being very large. Pericardial effusion sometimes requires pericardiocentesis and ultimately pericardial stripping to prevent reaccumulation of the effusion. [ncbi.nlm.nih.gov]

[…] of hair 【脱毛症】*alopecia (弾) 【弾性線維症】*elastosis 【弾発指】*trigger finger ( バネ指) (談) 【談話困難症】*dyslogia (デ) 【デング出血熱】*Dengue hemorrhagic fever (略 DHF) (電) 【電撃痛】*shooting pain *lancinating pain (伝) 【伝染性下痢】*epidemic diarrhea ( 流行性下痢) 【伝染性結膜炎】*infectious conjunctivitis [medo.jp]

[…] to thrive- microcephaly syndrome 2 Cases 55654 Hypotrichosis simplex 38 Cases 1573 Hypotrichosis with juvenile macular degeneration 50 Cases 330029 Hypotrichosis-deafness syndrome 1 Case 2266 Hypotrichosis-intellectual disability, Lopes type 2 Cases [azkurs.org]

[…] to thrive Vomiting Short clavicles Behavioral abnormality Fever Delayed speech and language development Glossoptosis Abnormality of finger Anemia Abnormality of the neck Nystagmus Wide cranial sutures Aplasia/Hypoplasia of the nipples Redundant neck [mendelian.co]

The skin is lax and atrophic mimicking that of an elderly individual, and there is failure to thrive. [22], [23] Cantu syndrome Cantu syndrome is a rare hypertrichotic syndrome with an AD pattern of inheritance. [24], [25] Clinically apart from hypertrichosis [ijtrichology.com]

One case reported by Murayama et al. [ 20 ] had failure to thrive, had seizures and exhibited chronic progressive rigidity, dystonia and spasticity. She was initially thought to have cerebral palsy. [ped-rheum.biomedcentral.com]

[…] non-traumatic avascular necrosis Semilobar holoprosencephaly Septopreoptic holoprosencephaly Severe X-linked intellectual disability, Gustavson type Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Severe feeding difficulties-failure [se-atlas.de]

Hennekam, Infantile hypertrophic pyloric stenosis—genetics and syndromes, Nature Reviews Gastroenterology & Hepatology, 10.1038/nrgastro.2012.133, 9, 11, (646-660), (2012) ., (2012). [doi.org]

Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, prominent mouth with full lips and macroglossia [orpha.net]

[…] disorders acromegaloid facial appearance (AFA) and hypertrichosis and acromegaloid facial features (HAFF) are characterized by congenital hypertrichosis; distinctive coarse facial features (including broad nasal bridge, wide mouth with full lips and macroglossia [ncbi.nlm.nih.gov]

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome SP Robertson, E Kirk, F Bernier… - American journal of …, 1999 - Wiley Online Library Abstract Cantú syndrome ( hypertrichosis, osteochondrodysplasia, cardiomegaly) is [archive.fo]

Cardiomegaly is found in the majority of patients and pericardial effusions have been present occasionally. [orpha.net]

(DO) Synonyms: exact_synonym: Cantu syndrome; Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome; Hypertrichotic osteochondrodysplasia primary_id: MESH:C535572 ; RDO:0000771 alt_id: OMIM:239850 xref: GARD:8585 For additional species annotation [rgd.mcw.edu]

Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. [diseaseinfosearch.org]

It may also be associated with recurrent infections with low immunoglobulin levels and gastric bleeding, and additional possible associations include lymphoedema and heterochromia iridis. [en.wikipedia.org]

Endocrine evaluation of hirsutism. Int J Womens Dermatol. 2017 Mar. 3 (1 Suppl):S6-S10. [Medline]. [Full Text]. Hafsi W, Badri T. Hirsutism. StatPearls [Internet]. 2018 January. Treasure Island, Fla: [Medline]. [Full Text]. [emedicine.medscape.com]

The macroglossia and hirsutism that can be seen in congenital hypothyroidism may overlap with features of Cantú syndrome. Acromegaly. [ncbi.nlm.nih.gov]

Bilateral coxa valga with subluxation of both hips has been described as part of the hirsutism-skeletal dyspla-sia-mental retardation syndrome (OMIM 142625), which presents as marked hirsutism, brachycephaly, abnormal facies, mental retardation, pes cavus [rrnursingschool.biz]

[…] about MARTSOLF SYNDROME Low match ZIMMERMANN-LABAND SYNDROME 1; ZLS1 Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism [mendelian.co]

[…] syndrome 1 Case 2266 Hypotrichosis-intellectual disability, Lopes type 2 Cases 69735 Hypotrichosis-lymphedema- telangiectasia-renal defect syndrome 4 Cases 254509 Iatrogenic botulism 180 Cases 2268 ICF syndrome 66 Cases 2273 Ichthyosis follicularis-alopecia [azkurs.org]

[…] dystrophy congenital megaconial type, CHST % 96% Ehlers-Danlos syndrome musculocontractural type, CHSY % 92% Temtamy preaxial brachydactyly syndrome, CHUK % 97% Cocoon syndrome, CKAP2L % 100% Filippi syndrome, CLDN % 99% Ichthyosis,leukocyte vacuoles,alopecia [docplayer.net]

[…] disability syndrome Alopecia-epilepsy-pyorrhea-intellectual disability syndrome Alopecia-intellectual disability syndrome Alpha-thalassemia-X-linked intellectual disability syndrome Alpha-thalassemia-intellectual disability syndrome linked to chromosome [se-atlas.de]

diabetes mellitus, mental retardation, and extrapyramidal syndrome, see Woodhouse-Sakati syndrome hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome, see Woodhouse-Sakati syndrome hypogonadism, diabetes [herenciageneticayenfermedad.blogspot.com]

Narcolepsy-cataplexy 25209893 Congenital isolated thyroxine-binding globulin 46 93402 Syndactyly type 1 25 deficiency 90291 Systemic sclerosis 25247 Arrhythmogenic right ventricular dysplasia 43.5 95719 Thyroid hemiagenesis 2545360 Ménière disease 42.5 701 Alopecia [fliphtml5.com]

Clinical Synopsis: INHERITANCE: Autosomal dominant GROWTH: [Weight]; Birthweight 90th percentile HEAD AND NECK: [Head]; Macrocephaly; [Face]; Coarse facies; Prominent forehead; Long philtrum; [Eyes]; Epicanthal folds; Long, curly eyelashes; [Nose]; Anteverted [genome.jp]

Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. [diseaseinfosearch.org]

Coxa Valga [Vertically-oriented femoral neck] Coxa valga is a nonspecific defect occurring in a variety of unrelated disorders, both congenital or acquired. [rrnursingschool.biz]

valga, enlarged medullar canal, long bones shaped like an ‘Erlenmeyer flasks’ and generalized osteopenia. [springerlink.com]

Limb radiographs showed Ehrlenmeyer flask-like deformities of the femora and the humeri; the radii and ulnae had similarly broad and undermodeled metaphyses and diaphyses, and bilateral coxa valga was present. [genome.jp]

Intellect is typically normal; behavioral problems can include anxiety, mood swings, obsessive-compulsive disorder, and tics. [ncbi.nlm.nih.gov]

Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, prominent mouth with full lips and macroglossia [orpha.net]

Some features are suggestive of a storage disorder, including macrocephaly and coarse facial features, with a broad nasal bridge, epicanthal folds, wide mouth, and full lips. [diseaseinfosearch.org]

Hypertrichotic osteochondrodysplasia (Cantu syndrome), AD, sporadic, Unidentified, Coarse dysmorphic facies ... prominent forehead, broad nasal bridge, hypertelorism), hypertrichosis, CHD (cardiomegaly ... [archive.fo]

Cantú syndrome and the related disorders acromegaloid facial appearance (AFA) and hypertrichosis and acromegaloid facial features (HAFF) are characterized by congenital hypertrichosis; distinctive coarse facial features (including broad nasal bridge, [ncbi.nlm.nih.gov]

The female patient had a short neck, narrow thorax, and generalized hypertrichosis. [genome.jp]

neck Decreased length of neck 0000470 Skeletal dysplasia 0002652 Umbilical hernia 0001537 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width [rarediseases.info.nih.gov]

The facial gestalt included: macrocephaly, thick and bushy eyebrows, epicanthal folds, a broad nasal bridge, a bulbus nose, a long philtrum, thick lips (particularly the lower lip), a short neck, and low-set ears (Fig. 1 A). [karger.com]

neck Low posterior hairline Large for gestational age Pyloric stenosis Growth delay Accelerated skeletal maturation Motor delay Hypertrichosis Thick lower lip vermilion Delayed skeletal maturation Optic atrophy Atrial septal defect Umbilical hernia Talipes [mendelian.co]

However, the degree and extent of facial deformity varies and the judgment of abnormality, such as “triangular” or “coarse” face, hypertelorism, “nasal contour” or “short stature”, should take into account the ethnicity and developmental stage of the [jle.com]

Abstract Cantú syndrome is a very rare autosomal dominant disorder characterized by generalized congenital hypertrichosis, neonatal macrosomia, coarse face, cardiomegaly, and occasionally, skeletal abnormalities. [karger.com]

face-macrocephaly-cerebellar hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Intellectual disability-developmental delay-contractures syndrome Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus [se-atlas.de]

lips [ more ] 0012471 Wide mouth Broad mouth Large mouth [ more ] 0000154 30%-79% of people have these symptoms Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Broad hallux phalanx Broad bone of [rarediseases.info.nih.gov]

lips; Gingival hypertrophy; [Neck]; Short neck CARDIOVASCULAR: [Heart]; Cardiomegaly; Pericardial effusions; Congenital hypertrophy of left ventricle; Bicuspid aortic valve; [Vascular]; Patent ductus arteriosus CHEST: [External features]; Narrow thorax [genome.jp]

The facial gestalt included: macrocephaly, thick and bushy eyebrows, epicanthal folds, a broad nasal bridge, a bulbus nose, a long philtrum, thick lips (particularly the lower lip), a short neck, and low-set ears (Fig. 1 A). [karger.com]

Intellect is typically normal; behavioral problems can include anxiety, mood swings, obsessive-compulsive disorder, and tics. [ncbi.nlm.nih.gov]

Some individuals who do not have macrocephaly at birth have developed progressive macrocephaly in childhood. Generalized edema at birth (observed on occasion) usually resolves spontaneously. [ncbi.nlm.nih.gov]

bone age; [Skull]; Widened posterior fossa; Enlarged sella; [Spine]; Platyspondyly; Ovoid-shaped vertebral bodies (childhood); Cuboid-shaped vertebral bodies (post-puberty); [Pelvis]; Hypoplastic ishchiopubic rami; Coxa valga; Narrow obturator foramen [genome.jp]

Generalized osteopenia, delayed bone age, and craniosynostosis have also been described. Figure 1 A, B, C. Facial appearance showing hirsutism of the forehead with low frontal hairline and coarse features D, E. [ncbi.nlm.nih.gov]

bone age Hypoplastic ischium and pubic bones Erlenmeyer flask-like long bones with metaphyseal flaring Narrow obturator foramen Coxa vara Scoliosis Osteopenia Delayed bone age Skin and joints Loose and/or wrinkled skin, especially in neonates Deep palmar [doi.org]

sella; [Spine]; Platyspondyly; Ovoid-shaped vertebral bodies (childhood); Cuboid-shaped vertebral bodies (post-puberty); [Pelvis]; Hypoplastic ishchiopubic rami; Coxa valga; Narrow obturator foramen; [Limbs]; Widened metaphyses; Erlenmeyer flask femora [genome.jp]