difficulties Open mouth Short philtrum Anteverted nares Microcephaly Delayed speech and language development Low-set ears Abnormal facial shape Growth delay Depressed nasal bridge Muscular hypotonia Intrauterine growth retardation Short nose Hypoplasia [mendelian.co]

difficulties in infancy 0008872 Glabellar hemangioma 0001076 Hand clenching Clenched hands 0001188 Hydronephrosis 0000126 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Hypertonia 0001276 Hypoplastic philtrum 0005326 Hypospadias 0000047 [rarediseases.info.nih.gov]

Feeding difficulties These are caused by a combination of the small mandible, the position of the tongue, respiratory distress, and cleft palate. [emedicine.medscape.com]

During the neonatal period, most JS children have prolonged hospitalizations, due most commonly to a combination of feeding difficulties, cardiac problems, and/or bleeding problems. [ojrd.biomedcentral.com]

difficulty, irritability, hypoplastic optic nerves Narrow palpebral fissures, deep set eyes, full cheeks, small mandible, prominent lateral palatine ridges, prominent frenulum between upper central incisors, tented upper lip with downturned corners of [thieme-connect.com]

[…] craniofacial dysostosis Leukocytosis Intellectual disability, progressive Encephalopathy Wide mouth Syndactyly Craniosynostosis Dental malocclusion Low anterior hairline Partial agenesis of the corpus callosum Hallux valgus Anterior plagiocephaly Pain Fever Vomiting [mendelian.co]

fingers [ more ] 0001238 Smooth philtrum 0000319 Stenosis of the external auditory canal Narrowing of passageway from outer ear to middle ear 0000402 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Supernumerary nipple Accessory nipple 0002558 [rarediseases.info.nih.gov]

Hands show cutaneous syndactyly, flat finger pads with fetal tubercule, thin fingers, large 1 st interphalangeal joints, hypoplastic hypotenar regions, abnormal palmar creases, hypoplastic thenar regions. [ojrd.biomedcentral.com]

nasal bridge Muscular hypotonia Intrauterine growth retardation Short nose Hypoplasia of the corpus callosum Motor delay Hypertelorism Hearing impairment Obsessive-compulsive behavior Mandibular prognathia Short foot Autistic behavior Attention deficit [mendelian.co]

Craniosynostosis Midface hypoplasia Syndactyly Frontal flattening Hypertelorism Depressed nasal bridge Exophthalmos Mitten like syndactyly Valgus deformity Pinky Hallux Varus Acrocephaly 27 28.  Constricted palate  Narrow arch  Crowding of teeth  [slideshare.net]

lips [ more ] 0000233 Trigonocephaly Triangular skull shape Wedge shaped skull [ more ] 0000243 Turricephaly Tall shaped skull Tower skull shape [ more ] 0000262 Umbilical hernia 0001537 Upslanted palpebral fissure Upward slanting of the opening between [rarediseases.info.nih.gov]

CS is an autosomal dominant syndrome characterized by craniosynostosis (premature fusion of the skull sutures), hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism [abcam.com]

face Midface retrusion Thin upper lip vermilion Constipation Behavioral abnormality High palate Gastroesophageal reflux Rare Symptoms - Less than 30% cases Cone-shaped epiphysis Aggressive behavior Red hair Fair hair Long nose Spinal canal stenosis Mild [mendelian.co]

nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Showing of 57 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

Several types of combined malformations such as: KFS frontonasal dysplasia Sprengel deformity widely spaced nipples psotaxial hexadactily of the left foot, 4 KFS malformations of laryngeal cartilages 5 KFS microtia conductive hearing loss bilateral restriction [ispub.com]

[…] hands short slender tapered fingers 15 Traylor et al[ 19 ] Patient 4 Severely delayed Chiari I malformation Small downslanting palpebral fissures, posteriorly rotated ears, uveal coloboma, coloboma of the choroid and retina Fetal growth retardation, wide-spaced [thieme-connect.com]

[…] ambiguous genitalia; absent or rudimentary nipples; parchment skin, delayed development of expressive language Autosomal recessive Aniridia-Wilms' tumor association 21, 22 Moderate to severe mental deficiency, growth deficiency, microcephaly, aniridia, nystagmus [glowm.com]

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet 38(11):1242-4, 2006. e-Pub 2006. PMID: 17013395. [faculty.mdanderson.org]

speech and language development Low-set ears Abnormal facial shape Growth delay Depressed nasal bridge Muscular hypotonia Intrauterine growth retardation Short nose Hypoplasia of the corpus callosum Motor delay Hypertelorism Hearing impairment Obsessive-compulsive [mendelian.co]

[…] progressive Encephalopathy Wide mouth Syndactyly Craniosynostosis Dental malocclusion Low anterior hairline Partial agenesis of the corpus callosum Hallux valgus Anterior plagiocephaly Pain Fever Vomiting Hyperlordosis Recurrent otitis media Small nail Broad-based [mendelian.co]