Downslanted palpebral fissures, and Cleft upper lip

Diseases related with Downslanted palpebral fissures and Cleft upper lip

In the following list you will find some of the most common rare diseases related to Downslanted palpebral fissures and Cleft upper lip that can help you solving undiagnosed cases.


Top matches:

High match ZLOTOGORA-OGUR SYNDROME


Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZLOTOGORA-OGUR SYNDROME

High match ROSSELLI-GULIENETTI SYNDROME


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

High match MICROPHTHALMIA WITH LIMB ANOMALIES; MLA


MICROPHTHALMIA WITH LIMB ANOMALIES; MLA Is also known as waardenburg anophthalmia syndrome|anophthalmia-syndactyly|ophthalmoacromelic syndrome|oas

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Cleft palate
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES; MLA

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Other less relevant matches:

High match SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Low-set ears
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15

High match HARTSFIELD SYNDROME


Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

High match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC


HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

High match OPITZ GBBB SYNDROME, TYPE I; GBBB1


The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1

High match AARSKOG-SCOTT SYNDROME


Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

High match 3MC SYNDROME 2; 3MC2


The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 2; 3MC2 Is also known as ptosis of eyelids with diastasis recti and hip dysplasia|oculo-skeletal-abdominal syndrome|carnevale syndrome, formerly|osa syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 3MC SYNDROME 2; 3MC2

High match POSTAXIAL ACROFACIAL DYSOSTOSIS


Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.

POSTAXIAL ACROFACIAL DYSOSTOSIS Is also known as genee-wiedemann syndrome|miller syndrome|mandibulfacial dysostosis with postaxial limb anomalies|postaxial acrodysostosis|poads|acrofacial dysostosis, genee-wiedmann type

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Micrognathia
  • Strabismus
  • Cleft palate


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about POSTAXIAL ACROFACIAL DYSOSTOSIS

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Cleft upper lip

Symptoms // Phenotype % cases
Cleft palate Very Common - Between 80% and 100% cases
Cleft lip Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Syndactyly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Downslanted palpebral fissures and Cleft upper lip. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears

Common Symptoms - More than 50% cases


Oral cleft

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Micrognathia Epicanthus Global developmental delay Growth delay Bilateral cleft lip and palate Low-set, posteriorly rotated ears Abnormality of cardiovascular system morphology Protruding ear Hypodontia Finger syndactyly Strabismus Nail dysplasia Posteriorly rotated ears Bilateral single transverse palmar creases Postnatal growth retardation Telecanthus Ptosis Respiratory insufficiency Ectodermal dysplasia Bilateral cleft lip Non-midline cleft lip Highly arched eyebrow Malar flattening Short stature Depressed nasal bridge Toe syndactyly Hearing impairment Horseshoe kidney Pectus excavatum Macrotia Hypogonadism Hypospadias

Rare Symptoms - Less than 30% cases


Respiratory distress Ectropion Patent ductus arteriosus Postaxial hand polydactyly Supernumerary nipple Abnormal facial shape Scoliosis Single transverse palmar crease Conductive hearing impairment Anteverted nares Abnormal vertebral morphology Split hand Radioulnar synostosis Craniosynostosis Cutaneous syndactyly Umbilical hernia Hernia Abnormal heart morphology Intestinal malrotation Anal atresia Clinodactyly of the 5th finger Short neck Volvulus Megalocornea Cognitive impairment Camptodactyly of finger Increased number of teeth Seizures Broad forehead Severe global developmental delay Micropenis Agenesis of corpus callosum Intrauterine growth retardation Microcephaly Small hand Broad foot Hip dislocation Ventricular septal defect Blepharophimosis Abnormality of dental enamel Cutaneous syndactyly of toes Pili torti Dystrophic fingernails Sparse lateral eyebrow Dystrophic toenail Anodontia Cutaneous finger syndactyly Abnormality of the ear Abnormality of dental morphology Palmoplantar hyperkeratosis Scrotal hypoplasia Abnormal dermatoglyphics Sparse eyelashes Sparse and thin eyebrow Progressive hypotrichosis Hypohidrosis Microdontia Wide intermamillary distance Synophrys Carious teeth Neurological speech impairment Sparse hair Hyperlordosis Abnormality of the kidney EEG abnormality Recurrent respiratory infections Midface retrusion Abnormality of the dentition Abnormality of the philtrum Abnormality of the ureter Microphthalmia High palate Polydactyly Prominent forehead Frontal bossing Abnormality of the pharynx Short thumb Ectropion of lower eyelids Chylothorax Right aortic arch Abnormality of the nasopharynx Intestinal lymphangiectasia Bladder exstrophy Recurrent aspiration pneumonia Exstrophy Pulmonary artery atresia Osteoma Microtia Posterior pharyngeal cleft Abnormal cardiac septum morphology Congestive heart failure Behavioral abnormality Abnormality of the middle ear Long philtrum Inguinal hernia Abnormality of the foot Cupped ear Widow's peak Recurrent urinary tract infections Supernumerary vertebrae Pneumonia Gastroesophageal reflux Thin upper lip vermilion Pectus carinatum Smooth philtrum Interphalangeal joint contracture of finger Ambiguous genitalia Congenital diaphragmatic hernia Large fontanelles Choanal atresia Aspiration Abnormality of the voice Prominent metopic ridge Acrania Double outlet right ventricle Aspiration pneumonia Hydrocele testis Premature birth Pes planus Coloboma Attention deficit hyperactivity disorder Proptosis Congenital hip dislocation Shawl scrotum External ear malformation Diastasis recti Genu recurvatum High anterior hairline Abnormality of the cervical spine Abnormal vertebral segmentation and fusion Generalized hypotonia Depressivity Muscular hypotonia of the trunk Hyperextensible skin Prominent nasal bridge Joint hypermobility Downturned corners of mouth Omphalocele Torticollis Hypoplasia of the radius Pyloric stenosis Depressed nasal tip Abnormality of the vertebral column Broad palm Round face Hypoplasia of the ulna Limited elbow movement Mandibulofacial dysostosis Feeding difficulties Joint hyperflexibility Partial abdominal muscle agenesis Prominence of the premaxilla Caudal appendage Epicanthus inversus Talipes Esodeviation Conical tooth Hypoplasia of the maxilla Hypoplasia of the musculature Eyelid coloboma Bilateral conductive hearing impairment Broad philtrum Depressed nasal ridge Short palm Anencephaly Everted lower lip vermilion Short foot Delayed eruption of teeth Short 5th finger Intellectual disability, profound Dysphagia Splenomegaly Abnormal renal morphology Hand oligodactyly Flared nostrils Foot oligodactyly Metacarpal synostosis Camptodactyly of 2nd-5th fingers Fused fourth and fifth metacarpals Hepatomegaly Brachydactyly Macrocephaly Polyhydramnios Postaxial foot polydactyly Skeletal dysplasia Hepatosplenomegaly Narrow chest Postaxial polydactyly Limb undergrowth Coarctation of aorta Small nail Short ribs Cone-shaped epiphysis Mesomelia Atrioventricular canal defect Short femur Fibular hypoplasia Hamartoma Anhidrosis Alopecia Hyperhidrosis Nail dystrophy Triangular face Sparse scalp hair Brittle hair Aplasia/Hypoplasia of the eyebrow Hypoplasia of the zygomatic bone Hypotrichosis Pterygium Scaling skin Anteverted ears Oligodactyly Talipes equinovarus Short nose Retrognathia Abnormality of the cardiovascular system Short palpebral fissure Abnormality of the hair Hemivertebrae Sandal gap Deep philtrum Anophthalmia Tibial bowing Metaphyseal dysplasia Spinal canal stenosis Sensorineural hearing impairment Convex nasal ridge Duplication of thumb phalanx Hypoplasia of the frontal bone Lobar holoprosencephaly Cataract Anemia Visual impairment Myopia Photophobia Joint stiffness Congenital cataract Webbed neck Hypoplasia of penis Semilobar holoprosencephaly High myopia Abnormality of the fingernails Polycystic ovaries Hypoplastic toenails Microcytic anemia Iron deficiency anemia Increased serum ferritin Abnormality of the elbow Ectopic anus Nuclear cataract Pulverulent cataract Hypernatremia Long hallux Short clavicles Wide nose Median cleft lip Thoracic dysplasia Vaginal atresia Complete atrioventricular canal defect Horizontal ribs Accessory oral frenulum Bilateral postaxial polydactyly Hydrometrocolpos Hypoplasia of the epiglottis Partial atrioventricular canal defect Neonatal hypotonia Hypotelorism Central diabetes insipidus Encephalocele Holoprosencephaly Aplasia/Hypoplasia of the corpus callosum Poor head control Hypoplasia of the brainstem Diabetes insipidus Abnormality of digit Absent septum pellucidum Ectrodactyly Aplasia/Hypoplasia of the radius Gonadotropin deficiency Midgut malrotation



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