Downslanted palpebral fissures, and Hip dislocation

Diseases related with Downslanted palpebral fissures and Hip dislocation

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Flexion contracture
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about MEESTER-LOEYS SYNDROME; MRLS

High match 3MC SYNDROME

3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.

3MC SYNDROME Is also known as craniofacial-ulnar-renal syndrome|malpuech-michels-mingarelli-carnevale syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about 3MC SYNDROME

Other less relevant matches:

URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU Is also known as faciocardiomusculoskeletal syndrome, uruguay type|fcms

Related symptoms:

  • Scoliosis
  • Low-set ears
  • Downslanted palpebral fissures
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.

DISTAL ARTHROGRYPOSIS TYPE 5D Is also known as distal arthrogryposis type 5 without ophthalmoparesis|da5d|distal arthrogryposis type 5 without ophthalmoplegia

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL ARTHROGRYPOSIS TYPE 5D

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay|cutis laxa, debre type|cutis laxa with bone dystrophy|cutis laxa with joint laxity and retarded development|arcl2|cutis laxa with congenital disorder of glycosylation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags.

SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME Is also known as sams syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME

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

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Hip dislocation

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Congenital hip dislocation Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Frontal bossing Common - Between 50% and 80% cases
Low-set ears Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Downslanted palpebral fissures and Hip dislocation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Scoliosis Malar flattening Prominent forehead Postnatal growth retardation Ventriculomegaly High palate Growth delay Global developmental delay Short nose Talipes equinovarus Midface retrusion Failure to thrive Joint hypermobility Abnormality of the skeletal system Pes planus Micrognathia Microcephaly Flexion contracture Narrow mouth Anteverted nares Deeply set eye Generalized hypotonia

Rare Symptoms - Less than 30% cases

Motor delay Hernia Broad forehead Inguinal hernia Hearing impairment Macrocephaly Ptosis Large fontanelles Hyperlordosis Hypotelorism Hydrocephalus Myopia Blepharophimosis Microphthalmia Strabismus Highly arched eyebrow Short neck Cutis laxa Growth abnormality Redundant skin Seizures Cleft palate Feeding difficulties Bulbous nose Short stature Intrauterine growth retardation Wide nose Camptodactyly Overgrowth Muscular hypotonia Mitral regurgitation Retrognathia Posteriorly rotated ears Prominent supraorbital ridges Narrow nasal ridge Bowing of the long bones Abnormal glycosylation Colpocephaly Prominent superficial veins Premature skin wrinkling Long philtrum Blue sclerae Hypoplastic labia majora Triangular face Mandibular prognathia Limited knee flexion Unilateral ptosis Tongue atrophy Calcaneovalgus deformity Agenesis of corpus callosum Osteoporosis Brachycephaly Gastroesophageal reflux Hypoplasia of the maxilla Osteopenia Joint laxity Protruding ear Pulmonary insufficiency Labial hypoplasia Furrowed tongue Epicanthus Recurrent fractures Feeding difficulties in infancy Abnormal isoelectric focusing of serum transferrin Carious teeth Sandal gap Cleft lip Toe syndactyly Cleft upper lip Single transverse palmar crease Postaxial hand polydactyly Abnormality of the cardiovascular system Short palpebral fissure Split hand Abnormal vertebral morphology Abnormality of the hair Horseshoe kidney Hemivertebrae Deep philtrum Syndactyly Anophthalmia Tibial bowing Oligodactyly Fibular hypoplasia Postaxial foot polydactyly Short femur Abnormal renal morphology Hand oligodactyly Flared nostrils Foot oligodactyly Metacarpal synostosis Camptodactyly of 2nd-5th fingers Polydactyly Depressed nasal bridge Confusion Cryptorchidism Polymicrogyria Flat face Dandy-Walker malformation High myopia Pachygyria Wide anterior fontanel Coarse hair Brittle hair Lipodystrophy Severe intrauterine growth retardation Oxycephaly Submucous cleft hard palate Respiratory insufficiency Scapulohumeral synostosis Conductive hearing impairment Talipes Rhizomelia Abnormality of the genitourinary system Atresia of the external auditory canal Proximal placement of thumb Preauricular pit Dislocated radial head Short humerus Scaphocephaly Hypoplastic scapulae Hypoplastic ilia Delayed ossification of pubic rami Distal arthrogryposis Autism Decreased muscle mass Downturned corners of mouth Dilatation of the cerebral artery Aortic dissection Pulmonary artery aneurysm Cervical spine instability Umbilical hernia Telecanthus Abnormality of the pinna Craniosynostosis Oral cleft Spina bifida occulta Abnormality of the sternum Radioulnar synostosis Bilateral cryptorchidism Supernumerary nipple Diastasis recti Abnormal anterior chamber morphology Abnormal nasal morphology Epicanthus inversus Caudal appendage Large fleshy ears Limited pronation/supination of forearm Striae distensae Aortic aneurysm Cardiomyopathy Facial hypotonia Diarrhea Absent speech Hypoglycemia Poor speech Narrow forehead Open mouth Chronic diarrhea Torticollis Tented upper lip vermilion Pyloric stenosis Congenital muscular torticollis Relative macrocephaly Increased head circumference Dilatation Proptosis Skeletal dysplasia Platyspondyly Bifid uvula Hypertrichosis Gingival overgrowth Joint dislocation Aortic regurgitation Prominent coccyx Congestive heart failure Rocker bottom foot Large for gestational age Behavioral abnormality Clinodactyly of the 5th finger Hyperactivity Micropenis High forehead Attention deficit hyperactivity disorder Hypoplasia of penis Tall stature Pointed chin Lissencephaly Disproportionate tall stature Hypoplasia of the corpus callosum Skeletal muscle atrophy Arthrogryposis multiplex congenita Ophthalmoplegia Round face Lumbar hyperlordosis Exotropia Elbow flexion contracture Adducted thumb Pterygium Congenital contracture Cerebellar atrophy Wide nasal bridge Kyphosis Skeletal muscle hypertrophy Elevated serum creatine phosphokinase Pes cavus Difficulty walking Hypertrophic cardiomyopathy Synophrys Everted lower lip vermilion Prominent nose Ventricular hypertrophy Joint contracture of the hand Abnormality of the voice Hallux valgus Dislocation of toes Broad palm Eclabion Limited elbow movement Brachyturricephaly Hyperplasia of the maxilla Camptodactyly of toe Progressive pes cavus Broad nail Marked muscular hypertrophy Pugilistic facies Fused fourth and fifth metacarpals


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