Two other unrelated patients (a German and a Turkish girl) from consanguineous families have recently been reported. [orpha.net]

1982].There were no further documented cases until 2008, when Lauschet al. reported two unrelated cases, of German and Turkish origin,with the clinical diagnosis of Cousin syndrome. [docslide.com.br]

Its features are disproportionate short stature. On radiograph, defective ossification of vertebral bodies, enlarged epiphyses ... [kegg.jp]

[…] submitterEpiblepharon of lower lid, Global developmental delay, Visual impairment, Feeding difficulties, Brachycephaly, Short lingual frenulum, Microcephaly, Intellectual disability, Global developmental delay, Downturned corners of mouth, AcromesomeliaSupraventricular tachycardia [ncbi.nlm.nih.gov]

272350 : SUMMITT SYNDROME 272430 : SWEATING, COLD-INDUCED 272440 : SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION 272450 : SYNDESMODYSPLASIC DWARFISM 272480 : SYRINGOMYELIA 272500 : SYSTEMIC CYSTIC ANGIOMATOSIS AND SEIP SYNDROME 272550 : TACHYCARDIA [www5.geometry.net]

[…] syndrome, syndrome, syndrome, syndrome, syndrome, syndromes, syndromic, synechia, syngnathia, synostoses, synostosis, synovialosarcoma, synovitis, synthase, synthesis, synthetase, synthetic, system, systemic, systemic-onset, T tabatznik, tachyarrhythmia, tachycardia [rapsodyonline.eurordis.org]

Bidirectional tachycardia induced by catecholamine Bietti crystalline corneoretinal dystrophy Bietti crystalline dystrophy Bietti crystalline retinopathy Bifid nose with or without anorectal and renal anomalies Bifunctional enzyme deficiency Bilateral [csbg.cnb.csic.es]

[…] suture opacities 0 Cataract, Coppock-like 0 Cataract, cerulean 0 Cataract, congenital, partial 0 Cataract, nuclear 0 Cataract, posterior polar 0 Cataract, pulverulent 0 Cataract, zonular 0 Cataract-glaucoma 0 Catecholinergic polymorphic ventricular tachycardia [research.cchmc.org]

murmur, Ventricular septal defect, Attention deficit hyperactivity disorder, Asthma, ...see more Uncertain significance (Aug 20, 2016) criteria provided, single submitterEpiblepharon of lower lid, Global developmental delay, Visual impairment, Feeding [ncbi.nlm.nih.gov]

43:55 00:00 GENETICS A probably autosomal recessive condition (OMIM:260660) characterised by pelviscapular dysplasia with epiphyseal defects, dwarfism and facial dysmorphism –frontal bossing, hypertelorism, narrow palpebral fissures, deep set globes, strabismus [newmedicalterms.com]

[…] condition (OMIM:260660), possibly autosomal recessive, characterised by pelviscapular dysplasia with epiphyseal defects, congenital dwarfism and facial dysmorphism, including frontal bossing, hypertelorism, narrow palpebral fissures, deep-set globes, strabismus [medical-dictionary.thefreedictionary.com]

Pelviscapular dysplasia Symptoms and clinical features may include: 1 Clinical Features of Pelviscapular dysplasia : Macrocephaly Hypertelorism Hearing impairment Low-set ears Abnormality of the pinna Stenosis of the external auditory canal Short neck Strabismus [familydiagnosis.com]

Definition Defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism, narrow palpebral fissures, deep set globes, strabismus, low-set posteriory rotated and unusually formed [uniprot.org]

FETALIS, IDIOPATHIC 237100 : HYMEN, IMPERFORATE 237400 : HYPER-BETA-ALANINEMIA 237550 : HYPERBILIRUBINEMIA, CONJUGATED, TYPE III 237900 : HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL 238200 : HYPERCYSTINURIA, ISOLATED 238340 : HYPERLEUCINE-ISOLEUCINEMIA [www5.geometry.net]

fetalis Alpha-thalassemia intermedia Alpha-thalassemia major Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis ALPS ALPS with recurrent infections ALS ALS4 ALSG ALSP Alström syndrome ALT Alternating hemiplegia in childhood [csbg.cnb.csic.es]

[…] of Hopf 748 Darier disease 748 Alpha-N-acetylgalactosaminidase deficiency, type 1 749 N-acetyl-alpha-D-galactosaminidase deficiency 749 NAGA 749 Alpha-thalassemia 750 HBA1 750 HBA2 750 HBZ 750 Hemoglobin Constant Spring 750 Hemoglobin H disease 750 Hydrops [research.cchmc.org]

Symptoms List: Pelviscapular dysplasia Symptoms and clinical features may include: 1 Clinical Features of Pelviscapular dysplasia : Macrocephaly Hypertelorism Hearing impairment Low-set ears Abnormality of the pinna Stenosis of the external auditory canal [familydiagnosis.com]

Congenital dwarfism (rhizomelic micromelia), facial dysmorphism (macrocephaly, hypertelorism, low-set ears), short neck, agenesis of the scapular wings, and hypoplasia of the iliac and acetabular wings occurred in both patients. [accessanesthesiology.mhmedical.com]

ears Low set ears Lowset ears [ more ] 0000369 Short stature Decreased body height Small stature [ more ] 0004322 30%-79% of people have these symptoms Abnormality of the pinna Abnormally shaped ears Auricular malformation Deformed ears Malformed ears [rarediseases.info.nih.gov]

Related symptoms: Autosomal recessive inheritance Microcephaly Cleft palate Low-set ears Short neck SOURCES: DOID UMLS MONDO OMIM More info about MECKEL SYNDROME, TYPE 8; MKS8 Too many results? We can help you with your rare disease diagnosis. [mendelian.co]

ears, and micrognathia (Kosenow et al. 1970). [arthritisresearch.us]

3 Williams syndrome Williams-Beuren syndrome Wilms tumor Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit Wilms tumor and pseudohermaphroditism Wilson disease Wilson-Turner syndrome Winchester syndrome Winged helix deficiency Winged [csbg.cnb.csic.es]

[…] body height Small stature [ more ] 0004322 30%-79% of people have these symptoms Abnormality of the pinna Abnormally shaped ears Auricular malformation Deformed ears Malformed ears Simple ears [ more ] 0000377 Blepharophimosis Narrow opening between [rarediseases.info.nih.gov]

Mutations in the TBX15 geneinherited in an autosomal recessive pattern have been suggested as the cause of this condition. [malacards.org]

Genetic counseling An autosomal recessive mode of transmission has been suggested. The documents contained in this web site are presented for information purposes only. [orpha.net]

The father was confirmed to be heterozygous forthe mutation but no sample was available from the deceasedmother.DISCUSSIONThe clinical and radiologicfindingsof ourpatientwere suggestive ofCousin syndrome, and were particularly reminiscent of the twoindividuals [docslide.com.br]

Of those 3 million base pairs, estimates suggest, between 20 and 25 thousand genes are protein-coding genes. [dna.universeofatoms.com]

neck with redundant skin folds, and a low hairline). [malacards.org]

neck with redundant skin folds, low hairline, and mild psychomotor retardation. [newmedicalterms.com]

neck Strabismus Deeply set eye Blepharophimosis Hypoplastic scapulae Hypoplastic ilia Brachydactyly Congenital hip dislocation Frontal bossing Low posterior hairline ... ... [familydiagnosis.com]

Skip to content Cousin syndrome Joe Segen 2016-11-25T12:43:55 00:00 GENETICS A probably autosomal recessive condition (OMIM:260660) characterised by pelviscapular dysplasia with epiphyseal defects, dwarfism and facial dysmorphism –frontal bossing, hypertelorism [newmedicalterms.com]

Cousin syndrome A condition (OMIM:260660), possibly autosomal recessive, characterised by pelviscapular dysplasia with epiphyseal defects, congenital dwarfism and facial dysmorphism, including frontal bossing, hypertelorism, narrow palpebral fissures, [medical-dictionary.thefreedictionary.com]

bossing Low posterior hairline ... ... [familydiagnosis.com]

Definition Defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism, narrow palpebral fissures, deep set globes, strabismus, low-set posteriory rotated and unusually formed [uniprot.org]