Ptosis, and Postaxial hand polydactyly

Diseases related with Ptosis and Postaxial hand polydactyly

In the following list you will find some of the most common rare diseases related to Ptosis and Postaxial hand polydactyly that can help you solving undiagnosed cases.


Top matches:

Medium match JOUBERT SYNDROME 7; JBTS7

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: MONDO OMIM DOID MESH UMLS

More info about JOUBERT SYNDROME 7; JBTS7

Medium match MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1

This disorder comprises megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome (MCAP ) (summary by Gripp et al., 2009). Genetic Heterogeneity the Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus SyndromeSee also MPPH2 (OMIM ), caused by mutation in the AKT3 gene (OMIM ) on chromosome 1q43-q44; and MPPH3 (OMIM ), caused by mutation in the CCND2 gene (OMIM ) on chromosome 12p13.

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1 Is also known as megalencephaly, polymicrogyria, mega corpus callosum syndrome;mpph, meg-pmg-megacc syndrome, megalencephaly, mega corpus callosum, and complete lack of motor development;mpph syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MONDO UMLS MESH

More info about MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1

Medium match ARIMA SYNDROME

Arima syndrome is an autosomal recessive disorder characterized by agenesis of the cerebellar vermis, ocular abnormalities, cystic kidney disease, and, in some cases, liver disease. It shares phenotypic features with Joubert syndrome (see {213300}), COACH syndrome (OMIM ), and familial juvenile nephronophthisis (see {256100}).

ARIMA SYNDROME Is also known as dekaban-arima syndrome, joubert syndrome with bilateral chorioretinal coloboma, coloboma, chorioretinal, with cerebellar vermis aplasia, cerebrooculohepatorenal syndrome;arima syndrome; cors; cerebellooculorenal syndrome; dekaban-arima syndrome; js type b; js-or; joubert syndrome with senior-loken syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM ORPHANET UMLS SCTID

More info about ARIMA SYNDROME

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Other less relevant matches:

Medium match ULNAR-MAMMARY SYNDROME; UMS

The ulnar-mammary syndrome is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996).

ULNAR-MAMMARY SYNDROME; UMS Is also known as pallister ulnar-mammary syndrome, schinzel syndrome;pallister ulnar-mammary syndrome; schinzel syndrome; ums

Related symptoms:

  • Autosomal dominant inheritance
  • Short stature
  • Hypertelorism
  • Growth delay
  • Ptosis


SOURCES: ORPHANET MESH GARD OMIM MONDO DOID SCTID UMLS

More info about ULNAR-MAMMARY SYNDROME; UMS

Medium match COACH SYNDROME

COACH syndrome is an autosomal recessive disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Other features, such as coloboma and renal cysts, may be variable. COACH syndrome is considered by some to be a subtype of Joubert syndrome (JBTS; see {213300}) with congenital hepatic fibrosis. Identification of liver disease in these patients is critical because some may develop complications such as portal hypertension with fatal variceal bleeding (Brancati et al., 2009; Doherty et al., 2010).

COACH SYNDROME Is also known as cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis, joubert syndrome with congenital hepatic fibrosis;coach syndrome; cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; gentile syndrome; js-h; joubert syndrome with congenital hepatic fibrosis

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: GARD ORPHANET MONDO SCTID OMIM MESH UMLS

More info about COACH SYNDROME

Medium match FRONTONASAL DYSPLASIA 1; FND1

The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11.2. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontorhiny, frontonasal dysplasia;fnd, frontonasal malformation;fnm, median facial cleft syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MONDO GARD OMIM

More info about FRONTONASAL DYSPLASIA 1; FND1

Medium match JOUBERT SYNDROME 1; JBTS1

Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). Genetic Heterogeneity of Joubert SyndromeSee also JBTS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q13; JBTS3 (OMIM ), caused by mutation in the AHI1 gene (OMIM ) on chromosome 6q23; JBTS4 (OMIM ), caused by mutation in the NPHP1 gene (OMIM ) on chromosome 2q13; JBTS5 (OMIM ), caused by mutation in the CEP290 gene, also called NPHP6 (OMIM ), on chromosome 12q21.32; JBTS6 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q21; JBTS7 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12.2; JBTS8 (OMIM ), caused by mutation in the ARL13B (OMIM ) on chromosome 3q11.2; JBTS9 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15.3; JBTS10 (OMIM ), caused by mutation in the CXORF5 gene (OMIM ) on chromosome Xp22.3; JBTS11 (see {613820}), caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene (OMIM ) on chromosome 15q26; JBTS13 (OMIM ), caused by mutation in the TCTN1 gene (OMIM ) on chromosome 12q24; JBTS14 (OMIM ), caused by mutation in the TMEM237 gene (OMIM ) on chromosome 2q33; JBTS15 (OMIM ), caused by mutation in the CEP41 gene (OMIM ) on chromosome 7q32; JBTS16 (OMIM ), caused by mutation in the TMEM138 gene (OMIM ) on chromosome 11q; JBTS17 (OMIM ), caused by mutation in the C5ORF42 gene (OMIM ) on chromosome 5p13; JBTS18 (OMIM ), caused by mutation in the TCTN3 gene (OMIM ) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16q12; JBTS20 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; JBTS21 (OMIM ), caused by mutation in the CSPP1 gene (OMIM ) on chromosome 8q13; JBTS22 (OMIM ), caused by mutation in the PDE6D gene (OMIM ) on chromosome 2q37; JBTS23 (OMIM ), caused by mutation in the KIAA0586 gene (OMIM ) on chromosome 14q23; JBTS24 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; JBTS25 (OMIM ), caused by mutation in the CEP104 gene (OMIM ) on chromosome 1p36; JBTS26 (OMIM ), caused by mutation in the KIAA0556 gene (OMIM ) on chromosome 16p12; JBTS27 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; JBTS28 (OMIM ), caused by mutation in the MKS1 gene (OMIM ) on chromosome 17q23; JBTS29 (see {617562}), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13; JBTS30 (OMIM ), caused by mutation in the ARMC9 gene (OMIM ) on chromosome 2q37; JBTS31 (OMIM ), caused by mutation in the CEP120 gene (OMIM ) on chromosome 5q23; JBTS32 (OMIM ), caused by mutation in the SUFU gene (OMIM ) on chromosome 10q24; and JBTS33 (OMIM ), caused by mutation in the PIBF1 gene (OMIM ) on chromosome 13q21.

JOUBERT SYNDROME 1; JBTS1 Is also known as joubert syndrome;jbts, joubert-boltshauser syndrome, cerebelloparenchymal disorder iv;cpd4, cerebellooculorenal syndrome 1;cors1;cpd iv; cerebelloparenchymal disorder iv; classic joubert syndrome; joubert syndrome type a; joubert-boltshauser syndrome; pure joubert syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM SCTID MONDO ORPHANET DOID

More info about JOUBERT SYNDROME 1; JBTS1

Medium match LATHOSTEROLOSIS

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

LATHOSTEROLOSIS Is also known as sterol c5-desaturase deficiency, sc5d deficiency;sterol c5-desaturase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: GARD MESH ORPHANET SCTID OMIM UMLS MONDO

More info about LATHOSTEROLOSIS

Medium match LOEYS-DIETZ SYNDROME 1; LDS1

The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). NomenclatureIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) (MacCarrick et al., 2014). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below). Genetic Heterogeneity of Loeys-Dietz SyndromeLDS1 is caused by mutation in the TGFBR1 gene. LDS2 (OMIM ) is caused by mutation in the TGFBR2 gene (OMIM ). LDS3 (OMIM ), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene (OMIM ). LDS4 (OMIM ) is caused by mutation in the TGFB2 gene (OMIM ). LDS5 (OMIM ) is caused by mutation in the TGFB3 gene (OMIM ). ReviewsMacCarrick et al. (2014) provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.

LOEYS-DIETZ SYNDROME 1; LDS1 Is also known as furlong syndrome, loeys-dietz aortic aneurysm syndrome, aortic aneurysm, familial thoracic 5;aat5;aortic aneurysm syndrome due to tgf-beta receptors anomalies

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Pica
  • Scoliosis


SOURCES: NCIT MONDO UMLS OMIM GARD ORPHANET

More info about LOEYS-DIETZ SYNDROME 1; LDS1

Medium match CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME; CFSMR

Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.

CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME; CFSMR Is also known as cerebrofaciothoracic dysplasia;pascual-castroviejo syndrome type 1

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MONDO SCTID OMIM MESH GARD UMLS ORPHANET

More info about CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME; CFSMR

Top 5 symptoms//phenotypes associated to Ptosis and Postaxial hand polydactyly

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Polydactyly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Mendelian

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Other less frequent symptoms

Patients with Ptosis and Postaxial hand polydactyly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Hydrocephalus

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Encephalocele Postaxial polydactyly Seizures Pica Muscular hypotonia Talipes equinovarus Inguinal hernia Motor delay Strabismus Downslanted palpebral fissures Macrocephaly Abnormal facial shape Cerebellar vermis hypoplasia Highly arched eyebrow Biparietal narrowing Occipital encephalocele Molar tooth sign on MRI Atrial septal defect Low-set ears Aplasia/Hypoplasia of the corpus callosum Cephalocele Heterogeneous Epicanthus Oral cleft Ataxia Coloboma Micrognathia Retinal dystrophy Nystagmus Nevus Apnea Hernia Hepatic fibrosis Heterotopia Tremor High palate Long face Prominent nasal bridge Low-set, posteriorly rotated ears Wide mouth Iris coloboma Narrow forehead Hand polydactyly Chorioretinal coloboma Craniosynostosis Abnormality of neuronal migration Abnormality of the hypothalamus-pituitary axis Short stature Cryptorchidism Abnormality of the genital system Camptodactyly of finger Camptodactyly Pectus carinatum Cleft palate Growth hormone deficiency Microcephaly Hepatomegaly Wide nasal bridge Abnormality of eye movement Absent speech Renal cyst Intellectual disability, severe Autosomal dominant inheritance Oculomotor apraxia Apraxia Stage 5 chronic kidney disease Frontal bossing Visual impairment Brainstem dysplasia Hypoplasia of the corpus callosum Abnormality of the eye Hypoplasia of the brainstem Nephronophthisis Renal insufficiency

Rare Symptoms - Less than 30% cases


Conductive hearing impairment Hypothyroidism Clinodactyly Joint contracture of the hand Cleft lip Wide nose Hypoplasia of the maxilla Hypoplasia of penis Round face Long eyelashes Hypertension Central apnea Arnold-Chiari malformation Meningoencephalocele Micropenis Upslanted palpebral fissure Shawl scrotum Tall stature Clinodactyly of the 5th finger Abnormality of the liver Gait disturbance Posteriorly rotated ears Patent ductus arteriosus Dilatation Cerebellar hypoplasia Agenesis of corpus callosum Elevated hepatic transaminase Feeding difficulties in infancy Pectus excavatum Abnormality of the kidney Long philtrum Cholestasis Portal hypertension Retinal coloboma Optic nerve coloboma Abnormal pattern of respiration Hearing impairment Cataract Renal hypoplasia Episodic tachypnea Sprengel anomaly Gingival overgrowth Pes planus Aganglionic megacolon Postaxial foot polydactyly Blindness Tics Mandibular prognathia Tachypnea Thin vermilion border Talipes Neonatal breathing dysregulation Ventriculomegaly Foot polydactyly Downturned corners of mouth Prominent forehead Self-mutilation Mitral regurgitation Short nose Agenesis of cerebellar vermis Nephropathy Telecanthus Abnormality of cardiovascular system morphology Polymicrogyria Ventricular septal defect Aplasia/Hypoplasia of the cerebellar vermis Bilobate gallbladder Foam cells with lamellar inclusion bodies Specific learning disability Occipital myelomeningocele Triangular-shaped open mouth Severe generalized osteoporosis Total cataract Sacral meningocele Schistocytosis Failure to thrive Enlarged fossa interpeduncularis Lumbosacral meningocele Abnormality of ocular smooth pursuit Retinal dysplasia Proptosis Retrognathia Impaired smooth pursuit Breathing dysregulation Abnormal saccadic eye movements Hypospadias Hemifacial spasm Elongated superior cerebellar peduncle Dysgenesis of the cerebellar vermis Malar flattening Abnormality of the skeletal system Myopia Abnormality of the thoracic spine Abnormal platelet morphology Butterfly vertebrae Anisopoikilocytosis Microcornea Poikilocytosis Myelomeningocele Prominent metopic ridge Bulbous nose Meningocele Bilateral talipes equinovarus Hepatic failure Acanthocytosis Elevated alkaline phosphatase Hyperbilirubinemia Full cheeks Horseshoe kidney Opacification of the corneal stroma Cerebral calcification Thick upper lip vermilion Generalized osteoporosis Cerebellar cortical atrophy Neural tube defect Abnormality of cholesterol metabolism Intrauterine growth retardation Cerebral atrophy Thrombocytopenia Sloping forehead Syndactyly Osteoporosis Intrahepatic cholestasis Increased mean platelet volume Ambiguous genitalia, male Myoclonus Adactyly Hepatosplenomegaly Toe syndactyly Pathologic fracture Muscular hypotonia of the trunk Kyphoscoliosis Cleft upper lip Low posterior hairline Renal agenesis Abnormality of the ribs Spontaneous abortion Wide intermamillary distance Vesicoureteral reflux Joint hypermobility Unsteady gait Thick eyebrow Flat face Narrow chest Synophrys Intention tremor Attention deficit hyperactivity disorder Nephrotic syndrome Postnatal growth retardation Anxiety Neonatal hypotonia Hydronephrosis Brachycephaly Cerebral cortical atrophy Polyhydramnios Hyporeflexia Midface retrusion Decreased fetal movement Sparse and thin eyebrow Feeding difficulties Abnormal hair pattern Microdontia of primary teeth Bifid ribs Bull's eye maculopathy Poliosis Vaginal fistula Hyperextensibility of the finger joints Broad philtrum Conical tooth Thoracic dysplasia Rib fusion Rectovaginal fistula Beaking of vertebral bodies Low anterior hairline Neurodevelopmental delay Large for gestational age Overlapping toe Vertebral fusion Supernumerary nipple Vertebral segmentation defect Coarse hair Sacral dimple Sparse eyelashes Hemivertebrae Abnormal vertebral morphology Short neck Generalized arterial tortuosity Joint laxity Situs inversus totalis Hallux valgus Atrophic scars Myopathic facies Ectopia lentis Finger clinodactyly Aortic aneurysm Cardiac arrest Bicuspid aortic valve Microretrognathia Joint dislocation Exotropia Thin skin Abnormality of the sternum Blue sclerae Mitral valve prolapse Abnormal bleeding Bifid uvula Bruising susceptibility Arachnodactyly Facial asymmetry Joint hyperflexibility Dolichocephaly Broad forehead Skeletal dysplasia Disproportionate tall stature Striae distensae Biconvex vertebral bodies Thoracic aortic aneurysm Uterine rupture Bicuspid pulmonary valve Descending thoracic aorta aneurysm Pulmonary artery aneurysm Multiple suture craniosynostosis Cystic medial necrosis Long thorax Unilateral ptosis Arterial dissection Dural ectasia Ascending aortic dissection Arterial tortuosity Aortic dissection Dermal translucency Long toe Ascending tubular aorta aneurysm Sagittal craniosynostosis Spondylolisthesis High anterior hairline Dilatation of the cerebral artery Narrow nose Soft skin Aortic root aneurysm Atypical scarring of skin Scaphocephaly Protruding tongue Partial agenesis of the corpus callosum Dandy-Walker malformation Anal stenosis Absent radius Hyperthyroidism Hypoplastic nipples Short humerus Decreased fertility External genital hypoplasia Bifid scrotum Hypoplastic toenails Hypoplasia of the ulna Abnormality of the clavicle Ventricular tachycardia Laryngomalacia Pyloric stenosis Hypoplasia of the radius Abnormality of the metacarpal bones Abnormality of the fingernails Split hand Abnormal retinal morphology Convex nasal ridge Inverted nipples Short clavicles Hypodontia Wide nasal base Ectopic posterior pituitary Subglottic stenosis Breast aplasia Broad eyebrow Aplasia/Hypoplasia of the ulna Anterior pituitary hypoplasia Laryngeal stenosis Perimembranous ventricular septal defect Supraventricular tachycardia Abnormality of the humerus Abnormality of the wrist Gonadotropin deficiency Breast hypoplasia Abnormality of the uterus Sparse axillary hair Hypoplastic scapulae Abnormality of finger Sparse lateral eyebrow Ectopic anus Oligodactyly Tachycardia Short distal phalanx of finger Abnormality of temperature regulation Abnormal localization of kidney Dyspnea Behavioral abnormality Oxycephaly Anemia High forehead Vascular ring Thick corpus callosum Cavum septum pellucidum Abnormal nasal morphology Dilation of lateral ventricles Kyphosis Abnormally large globe Thoracic scoliosis Megalencephaly Long palpebral fissure Cortical dysplasia Knee flexion contracture Intellectual disability, profound Pachygyria Abnormal cardiac septum morphology Narrow mouth Autistic behavior Delayed puberty Renal corticomedullary cysts Severe postnatal growth retardation Anal atresia Abnormal corpus callosum morphology Hyperhidrosis Obesity Arrhythmia Abnormality of the dentition Absence of renal corticomedullary differentiation Occipital meningocele Dilated fourth ventricle Hepatic steatosis Tubulointerstitial fibrosis Tubular atrophy Undetectable electroretinogram Polyuria Polycystic kidney dysplasia Polydipsia Depressed nasal bridge Skeletal muscle atrophy Intellectual disability, progressive Aplasia of the ulna Abnormality of the radius Open mouth Diabetes insipidus Bifid nose Widow's peak Bifid nasal tip Short columella Median cleft lip Facial cleft Adrenal insufficiency Multiple lipomas Lipoma Median cleft palate Flat occiput Radial deviation of finger Holoprosencephaly Hemangioma Preauricular skin tag Bilateral single transverse palmar creases Lymphedema Abnormality of the face Choanal atresia Broad columella Dermoid cyst Broad nasal tip Midline facial cleft Abnormal form of the vertebral bodies Macroglossia Abnormality of skin pigmentation Abnormality of the foot Aggressive behavior Hyperactivity Cognitive impairment Milia Genu valgum Anterior basal encephalocele Widely-spaced maxillary central incisors Frontal cutaneous lipoma Pectoral muscle hypoplasia/aplasia Basal encephalocele Ethmoidal encephalocele Lipoma of corpus callosum Morning glory anomaly Cranium bifidum occultum Scleral staphyloma Hypoplastic frontal sinuses Tetralogy of Fallot Webbed neck Absent axillary hair Elbow hypertrichosis Mutism Splenomegaly Infantile onset Hyperreflexia Spasticity Deformed radius Axillary apocrine gland hypoplasia Long uvula Unilateral oligodactyly Short 4th toe Intellectual disability, moderate Imperforate hymen Short 5th toe Body odor Red eye Aplasia of the pectoralis major muscle Laryngeal web Abnormal external genitalia Hernia of the abdominal wall Absent hand Dystonia Abnormality of the nervous system Postural instability Cholestatic liver disease Decreased testicular size Sporadic Abnormal heart morphology Microphthalmia Edema Brachydactyly Intrahepatic biliary atresia Multiple small medullary renal cysts Chronic hepatic failure Neoplasm of the liver Cirrhosis Congenital hepatic fibrosis Esophageal varix Abnormality of abdomen morphology Chronic kidney disease Aplasia/Hypoplasia of the cerebellum Multicystic kidney dysplasia Intestinal malrotation Horizontal nystagmus Gastrointestinal hemorrhage Exodeviation



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