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]

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]

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]

[…] 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]