In the younger sister a cardiac defect was diagnosed--ventricular and atrial septal defect, patent ductus arteriosus. They had some clinical features of Coffin-Siris syndrome, but with a milder phenotype and much less severe mental handicap. [ncbi.nlm.nih.gov]

septal defect and cleft mitral valve, hirsutism, and mild developmental delay. {1:Brautbar et al. (2009)} suggested that even though the patient met the minimal clinical diagnostic criteria of Coffin-Siris syndrome, some features, such as mild developmental [bio2rdf.org]

septal defect An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ] 0001631 Brachycephaly Short and broad skull 0000248 Clinodactyly of the 5th finger Permanent curving of [rarediseases.info.nih.gov]

septal defect Brachycephaly Clinodactyly of the 5th finger Coarse facial features Generalized hirsutism High anterior hairline Inguinal hernia Intellectual disability, mild Symphalangism affecting the phalanges of the hand Thick eyebrow Umbilical hernia [dovemed.com]

hernia 0000023 Intellectual disability, mild Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ] 0001256 Symphalangism affecting the phalanges of the hand Fused finger bones of the hand 0009773 [rarediseases.info.nih.gov]

hernia Intellectual disability, mild Symphalangism affecting the phalanges of the hand Thick eyebrow Umbilical hernia (Source: BOD Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences [dovemed.com]

Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism. [mendelian.co]

The older sister additionally had a high-pitched voice and eczema on the face and limbs. In the younger sister a cardiac defect was diagnosed--ventricular and atrial septal defect, patent ductus arteriosus. [ncbi.nlm.nih.gov]

The older sister additionally had a high-pitched voice and eczema on the face and limbs. In the younger sister a cardiac defect was diagnosed—ventricular and atrial septal defect, patent ductus arteriosus. [journals.lww.com]

[…] flattening Zygomatic flattening 0000272 Pointed chin Pointy chin Small pointed chin Witch's chin [ more ] 0000307 Prominent nose Big nose Disproportionately large nose Increased nasal size Increased size of nose Large nose Pronounced nose [ more ] 0000448 Strabismus [rarediseases.info.nih.gov]

[…] distal phalanx of toe Toenail dysplasia Wide nasal bridge Frequently present symptoms in 30-79% of the cases: Biparietal narrowing Epicanthus Frontal bossing High forehead Intrauterine growth retardation Malar flattening Pointed chin Prominent nose Strabismus [dovemed.com]

TEEBI TYPE Is also known as brachycephalofrontonasal dysplasia;brachycephalofrontonasal dysplasia; craniofrontonasal dysplasia, teebi type; teebi hypertelorism syndrome; teebi syndrome Related symptoms: Autosomal dominant inheritance Hypertelorism Strabismus [mendelian.co]

Clinical manifestations include mental retardation; muscular hypotonia; hyperphagia; obesity; short stature; hypogonadism; strabismus; and hypersomnolence. [icd10data.com]

head circumference [ more ] 0000252 Short distal phalanx of toe Short outermost bone of toe 0001857 Short stature Decreased body height Small stature [ more ] 0004322 Toenail dysplasia Abnormal toenail development 0100797 Wide nasal bridge Broad nasal [rarediseases.info.nih.gov]

This includes a flat nasal bridge, broad nose, wide mouth, thick lips, and in some cases, thick eyebrows, long eyelashes, palate malformations, a large tongue (macroglossia), and a small head (microcephaly). [encyclopedia.com]

[…] body height Small stature [ more ] 0004322 Toenail dysplasia Abnormal toenail development 0100797 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased [rarediseases.info.nih.gov]

chin Pointy chin Small pointed chin Witch's chin [ more ] 0000307 Prominent nose Big nose Disproportionately large nose Increased nasal size Increased size of nose Large nose Pronounced nose [ more ] 0000448 Strabismus Cross-eyed Squint Squint eyes [ [rarediseases.info.nih.gov]

Abstract Three unrelated children are reported with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area, large mouth, pointed chin), microcephaly, hypo/aplasia of the terminal fifth digits, and (sub)normal [ncbi.nlm.nih.gov]

Abstract : [en] Three unrelated children are reported with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area, large mouth, pointed chin), microcephaly, hypo/aplasia of the terminal fifth digits, and (sub [orbi.uliege.be]

chin), microcephaly, hypo/aplasia of the terminal fifth digits, and (sub)normal intelligence. [semanticscholar.org]

Dysmorphic facial features included high forehead, sparse hair, blepharophimosis, telecanthus, epicanthic folds, a low nasal bridge, a broad nasal tip and micrognathia. Their ears were low-set and malformed. [ncbi.nlm.nih.gov]

forehead 0000348 Intrauterine growth retardation Prenatal growth deficiency Prenatal growth retardation [ more ] 0001511 Malar flattening Zygomatic flattening 0000272 Pointed chin Pointy chin Small pointed chin Witch's chin [ more ] 0000307 Prominent [rarediseases.info.nih.gov]

forehead Intrauterine growth retardation Malar flattening Pointed chin Prominent nose Strabismus Triangular face Wide mouth Occasionally present symptoms in 5-29% of the cases: Abnormality of the mitral valve Abnormality of the respiratory system Atrial [dovemed.com]

bossing 0002007 High forehead 0000348 Intrauterine growth retardation Prenatal growth deficiency Prenatal growth retardation [ more ] 0001511 Malar flattening Zygomatic flattening 0000272 Pointed chin Pointy chin Small pointed chin Witch's chin [ more [rarediseases.info.nih.gov]

bossing High forehead Intrauterine growth retardation Malar flattening Pointed chin Prominent nose Strabismus Triangular face Wide mouth Occasionally present symptoms in 5-29% of the cases: Abnormality of the mitral valve Abnormality of the respiratory [dovemed.com]

Diseases related with Frontal bossing and Thick eyebrow In the following list you will find some of the most common rare diseases related to Frontal bossing and Thick eyebrow that can help you solving undiagnosed cases. [mendelian.co]

bossing, hypertelorism, wide palpebral fissures, short upturned nose with anteverted nares, long philtrum, receding chin, brachydactyly, hypoplastic genitalia, and a normal karyotype. [icd10data.com]

nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ [rarediseases.info.nih.gov]

nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). [mendelian.co]

face Confusion Hypoplasia of the ulna Choanal stenosis Abnormality of the metaphysis Functional respiratory abnormality Thick vermilion border Decreased testicular size Triangular face Glossoptosis Scapular winging Neonatal respiratory distress Protruding [mendelian.co]

The main skeletal anomalies are long, slender tubular bones, reduced anteroposterior diameter of the vertebral bodies, and delayed bone age. [mendelian.co]

Differences: microtia, markedly short stature, delayed bone age, characteristic facial appearance, autosomal recessive inheritance 5. [doi.org]