Rod-cone dystrophy, and Smooth philtrum

Diseases related with Rod-cone dystrophy and Smooth philtrum

In the following list you will find some of the most common rare diseases related to Rod-cone dystrophy and Smooth philtrum that can help you solving undiagnosed cases.


Top matches:

High match CRANIOECTODERMAL DYSPLASIA 4; CED4


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

High match CRANIOECTODERMAL DYSPLASIA 2; CED2


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

High match MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

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Other less relevant matches:

High match OPITZ GBBB SYNDROME, TYPE II; GBBB2


Features of the Opitz GBBB syndrome include hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; developmental delay; and congenital heart defects.The Opitz GBBB syndrome was earlier thought to be 2 separate X-linked syndromes called the G syndrome and the BBB syndrome; both were listed in the X-linked catalog as recently as the seventh edition of MIM (1986).The Opitz GBBB syndrome is genetically heterogeneous, with both autosomal dominant and X-linked (OMIM ) forms. Robin et al. (1996) compared the phenotypic features of the X-linked and autosomal forms. They found that anteverted nares and posterior pharyngeal cleft were seen only in the X-linked form. However, all other manifestations of the syndrome, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, were seen in both forms.

OPITZ GBBB SYNDROME, TYPE II; GBBB2 Is also known as opitz bbbg syndrome|gbbb syndrome|hypospadias-dysphagia syndrome|hypertelorism-hypospadias syndrome|opitz-g syndrome, type ii|telecanthus-hypospadias syndrome|g syndrome|opitz oculogenitolaryngeal syndrome, type ii|ogs2|opitz-frias syndrome|opitz gbbb syn

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE II; GBBB2

High match SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


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}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

High match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Medium match OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE


Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

Medium match ACROCALLOSAL SYNDROME; ACLS


The acrocallosal syndrome is an autosomal recessive mental retardation syndrome with brain abnormalities such as corpus callosum agenesis and/or Dandy-Walker malformation as well as dysmorphic features, postaxial polydactyly of the hands, and preaxial polydactyly of the feet (Schinzel and Schmid, 1980). It is considered a ciliopathy (Putoux et al., 2011).Joubert syndrome-12 is a disorder with an overlapping phenotype characterized by the hallmark finding of the molar tooth sign (MTS) on brain MRI. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.Hydrolethalus-2 (HLS2 ) is an allelic disorder with a more severe phenotype and death in utero.

ACROCALLOSAL SYNDROME; ACLS Is also known as hallux duplication, postaxial polydactyly, and absence of corpus callosum|schinzel acrocallosal syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME; ACLS

Medium match JOUBERT SYNDROME 10; JBTS10


Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

Medium match RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME


SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

Top 5 symptoms//phenotypes associated to Rod-cone dystrophy and Smooth philtrum

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Epicanthus Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Rod-cone dystrophy and Smooth philtrum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Wide nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Hernia

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Brachydactyly

Uncommon Symptoms - Between 30% and 50% cases


Frontal bossing Hearing impairment Strabismus Growth delay Seizures Hypertelorism Micrognathia Nystagmus Polydactyly Low-set ears Myopia Depressed nasal bridge Microcephaly Upslanted palpebral fissure Cryptorchidism Inguinal hernia Retrognathia Ataxia Hypothyroidism Thin upper lip vermilion Abnormality of the dentition Hypertension Downslanted palpebral fissures Posteriorly rotated ears Craniosynostosis Abnormal cardiac septum morphology Postaxial polydactyly Microdontia Narrow forehead Preauricular skin tag Short philtrum Macrocephaly Optic atrophy Motor delay Sensorineural hearing impairment Failure to thrive Visual impairment Wide mouth Gastroesophageal reflux Bifid uvula High, narrow palate Umbilical hernia Prominent forehead Long philtrum Ventricular septal defect Feeding difficulties Recurrent infections Hypospadias Cerebellar hypoplasia Tapered finger Mandibular prognathia Telecanthus Retinal dystrophy Nephronophthisis Cleft palate Syndactyly Stage 5 chronic kidney disease Cutis laxa Pectus excavatum Thin vermilion border Protruding ear Clinodactyly Renal insufficiency Abnormality of the skeletal system Abnormal heart morphology Hepatic fibrosis High forehead Anteverted nares

Rare Symptoms - Less than 30% cases


Clinodactyly of the 5th finger Muscular hypotonia Short distal phalanx of finger Ventriculomegaly Wide anterior fontanel Diabetes mellitus Enlarged cisterna magna Molar tooth sign on MRI Microretrognathia Progressive microcephaly Short palpebral fissure High myopia Exotropia Intellectual disability, moderate Single transverse palmar crease Toe syndactyly Chronic kidney disease Diastasis recti Agenesis of corpus callosum Intellectual disability, mild Cleft upper lip Laryngomalacia Prominent occiput Weak cry Narrow chest Recurrent urinary tract infections Cerebellar vermis hypoplasia Hypermetropia Dandy-Walker malformation Pneumonia Full cheeks Iris coloboma Oral cleft Abnormality of cardiovascular system morphology Anal atresia Prominent nasal bridge Prominent metopic ridge Coloboma Abnormality of the kidney Cleft lip Short nose Ectodermal dysplasia Micropenis Hiatus hernia Limb undergrowth Neonatal hypotonia Feeding difficulties in infancy Respiratory distress Cutaneous finger syndactyly Thick vermilion border Joint hypermobility Abnormality of skin pigmentation Blepharophimosis Cholangitis Deeply set eye Dolichocephaly Retinal degeneration Cataract Arachnodactyly Renal cyst Nephropathy Preaxial polydactyly Widely spaced teeth Low-set, posteriorly rotated ears Visual loss Microcornea Short ribs Polyhydramnios Postaxial hand polydactyly Open mouth Hypoplasia of the corpus callosum Severe global developmental delay Cholestasis Sparse hair Metopic synostosis Postnatal growth retardation Sagittal craniosynostosis Chorioretinal dystrophy Precocious puberty Broad distal phalanx of finger Joint laxity Hirsutism Absent speech Behavioral abnormality Intrauterine growth retardation Hepatomegaly Delayed speech and language development Anemia Short neck Scoliosis Small for gestational age Patent ductus arteriosus Abnormality of the pinna Finger syndactyly Recurrent aphthous stomatitis Thick hair Aplasia/Hypoplasia of the earlobes Tapetoretinal degeneration Bull's eye maculopathy Iris atrophy High-pitched cry Chorioretinal dysplasia Macrodontia Narrow philtrum Bone spicule pigmentation of the retina Granulocytopenia Congenital neutropenia Narrow palm Hyperplasia of the maxilla Hemeralopia Laryngeal stenosis Cutis gyrata of scalp Abnormality of the larynx Disproportionate tall stature Macular edema Intellectual disability, progressive Radioulnar synostosis Short metatarsal Reduced number of teeth Recurrent skin infections Venous thrombosis Leukopenia Sandal gap Low anterior hairline Failure to thrive in infancy Abnormality of retinal pigmentation Gingival overgrowth Long eyelashes Tall stature Clumsiness Lumbar hyperlordosis Decreased fetal movement Mitral valve prolapse Intracranial hemorrhage Rheumatoid arthritis Furrowed tongue Peripheral visual field loss Deep venous thrombosis Misalignment of teeth Facial hypotonia Vocal cord paralysis Microglossia Gingivitis Posterior subcapsular cataract Thoracic scoliosis Cubitus valgus Subcapsular cataract Celiac disease Narrow nasal bridge Abnormality of the hip bone Truncal obesity Cerebral hemorrhage Abnormality of dental morphology Constriction of peripheral visual field Thick corpus callosum Flat occiput Prominent eyelashes Partial agenesis of the corpus callosum Hypopigmentation of the fundus Hypoplasia of teeth Rectovaginal fistula Preaxial foot polydactyly Postaxial foot polydactyly Arachnoid cyst Anencephaly Abnormality of digit External genital hypoplasia Abnormal pulmonary valve morphology Diabetes insipidus Preaxial hand polydactyly Aplasia/Hypoplasia of the corpus callosum Finger clinodactyly Spontaneous abortion Omphalocele Wide intermamillary distance Esotropia Broad forehead Triangular mouth Cerebral hypoplasia Cerebral atrophy Cerebellar atrophy Broad columella Congenital hypothyroidism Corneal dystrophy Progressive hearing impairment Broad thumb Delayed myelination Broad nasal tip Glaucoma Alopecia Infra-orbital crease Duplication of phalanx of hallux Deep philtrum Encephalocele Intellectual disability, profound Polymicrogyria EEG abnormality Pulmonary valve defects Intracranial cystic lesion Bifid distal phalanx of the thumb Duplication of thumb phalanx Apnea Intellectual disability, severe Macrodontia of permanent maxillary central incisor Dry skin Narrow face Insulin resistance Hypertrichosis Epidermal acanthosis Specific learning disability Sepsis Abdominal distention Long face Hypoglycemia Hyperinsulinemia Coarse facial features Dyspnea Respiratory failure Brachycephaly Neoplasm Slender toe Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Acanthosis nigricans Lipodystrophy Onychauxis Fasting hypoglycemia Abnormality of upper lip Postprandial hyperglycemia Muscle flaccidity Diabetic ketoacidosis Abnormal lip morphology Choroideremia Thin eyebrow Advanced eruption of teeth Long penis Thick nail Clitoral hypertrophy Abnormality of the optic nerve Long foot Ketoacidosis Insulin-resistant diabetes mellitus Protuberant abdomen Ovarian neoplasm Progressive visual loss Absent eyebrow Hyperglycemia Pigmentary retinopathy Elevated hepatic transaminase Convex nasal ridge Pulmonary hypoplasia Aortic valve stenosis Aspiration Pulmonary arterial hypertension Coarctation of aorta Intestinal malrotation Vesicoureteral reflux Asthma Cough Cardiac arrest Hydronephrosis Conductive hearing impairment Cerebral cortical atrophy Hip dysplasia Constipation Dystonia Atrial septal defect Hoarse voice Anosmia Bone marrow hypocellularity Tracheomalacia Bicornuate uterus Concave nasal ridge Widow's peak Abnormality of the respiratory system Bilateral cleft lip and palate Megalencephaly Bilateral cleft lip Anal stenosis Recurrent upper respiratory tract infections Abnormality of the ureter Limb dystonia Rocker bottom foot Tracheoesophageal fistula Bifid scrotum Oral-pharyngeal dysphagia Stridor Abnormality of the urinary system Dysphagia Recurrent pneumonia Dilated fourth ventricle Patent foramen ovale Broad philtrum Biliary cirrhosis High anterior hairline Polysplenia Cystic hygroma Mesomelia Sparse eyebrow Plagiocephaly Bile duct proliferation Sparse eyelashes Narrow palpebral fissure Hyperbilirubinemia Hydrops fetalis Rhizomelia Left ventricular hypertrophy Acidosis Everted lower lip vermilion Cloverleaf skull Portal fibrosis Central hypothyroidism Camptodactyly Mild microcephaly Spondyloepiphyseal dysplasia Cutaneous syndactyly Dental crowding Decreased testicular size Febrile seizures Cone/cone-rod dystrophy Elevated serum creatinine Horizontal ribs Narrow mouth Gait ataxia Osteoporosis Pes valgus Broad phalanx of the toes Splenomegaly Midface retrusion Fused teeth Cavum septum pellucidum Ankyloglossia Otitis media Dilatation Arthritis Pes planus Kyphoscoliosis Macrotia Reduced visual acuity Obesity Thrombocytopenia Microphthalmia Paralysis Malar flattening Kyphosis Blindness Edema Cardiomyopathy Proteinuria Ptosis Respiratory tract infection Retinopathy Short proximal phalanx of finger Retinal detachment Aciduria Growth hormone deficiency Prominent nose Short metacarpal Hypoplasia of the maxilla Neutropenia Highly arched eyebrow Small hand Nyctalopia Thick eyebrow Astigmatism Joint hyperflexibility Genu valgum Delayed puberty Synophrys Neurological speech impairment Stroke Absence of renal corticomedullary differentiation Aplasia of the middle phalanx of the hand Inspiratory stridor Rectal atresia Skeletal dysplasia Depressivity Respiratory insufficiency Cognitive impairment Absent pulmonary artery Rectourethral fistula Posterior pharyngeal cleft Vascular ring Delayed eruption of teeth Laryngeal cleft Short lingual frenulum Hypoplasia of the epiglottis Hoarse cry Aplasia/Hypoplasia of the cerebellar vermis Cranial asymmetry Absent gallbladder Unilateral cleft lip Scarring Macroglossia Frontal upsweep of hair Recurrent lower respiratory tract infections Accessory oral frenulum Pyelonephritis Hypoplasia of the capital femoral epiphysis Pancreatic cysts Congenital hepatic fibrosis Thoracic dysplasia Cone-shaped epiphyses of the phalanges of the hand Scaphocephaly Sparse scalp hair Acute kidney injury Abnormal retinal morphology Short thorax Short femoral neck Cone-shaped epiphysis Trigonocephaly Short phalanx of finger Renal dysplasia Wide nasal base



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