Strabismus, and Amenorrhea

Diseases related with Strabismus and Amenorrhea

In the following list you will find some of the most common rare diseases related to Strabismus and Amenorrhea that can help you solving undiagnosed cases.


Top matches:

Low match BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

Low match CROUZON DISEASE


Crouzon disease is characterized by craniosynostosis and facial hypoplasia.

CROUZON DISEASE Is also known as crouzon craniofacial dysostosis|craniofacial dysostosis, type i|cfd1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CROUZON DISEASE

Low match CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME


Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

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Other less relevant matches:

Low match BARDET-BIEDL SYNDROME 1; BBS1


Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 1; BBS1

Low match BORJESON-FORSSMAN-LEHMANN SYNDROME


Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

BORJESON-FORSSMAN-LEHMANN SYNDROME Is also known as mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type|bfls|intellectual disability-epilepsy-endocrine disorders syndrome|borjeson syndrome|mrxsbfl|mental retardation, epilepsy, and endocrine disorders|borj

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BORJESON-FORSSMAN-LEHMANN SYNDROME

Low match COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS


Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as multiple pituitary hormone deficiencies, genetic forms|familial congenital hypopituitarism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

Low match WEAVER SYNDROME; WVS


Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome|wss

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WEAVER SYNDROME; WVS

Low match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Low match CORNELIA DE LANGE SYNDROME


Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).

CORNELIA DE LANGE SYNDROME Is also known as brachmann-de lange syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about CORNELIA DE LANGE SYNDROME

Low match MYHRE SYNDROME


Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature|laps syndrome|growth-mental deficiency syndrome of myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYHRE SYNDROME

Top 5 symptoms//phenotypes associated to Strabismus and Amenorrhea

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Strabismus and Amenorrhea. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Cataract

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism

Common Symptoms - More than 50% cases


Primary amenorrhea

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus

Common Symptoms - More than 50% cases


Hypogonadism

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Sensorineural hearing impairment Depressed nasal bridge Muscular hypotonia Hypertelorism Myopia Micrognathia Sparse hair Macrocephaly Decreased testicular size Radial deviation of finger High palate Delayed puberty Prominent forehead Pulmonic stenosis Mandibular prognathia Midface retrusion Growth delay Patent ductus arteriosus Choanal atresia Ventricular septal defect Delayed skeletal maturation Obesity Brachydactyly Constipation Clinodactyly Short neck Abnormality of cardiovascular system morphology Scoliosis Ataxia Peripheral neuropathy Intrauterine growth retardation Abnormality of the skeletal system Kyphosis Abnormality of the dentition Conductive hearing impairment External genital hypoplasia Generalized hypotonia Feeding difficulties Epicanthus Microphthalmia Hernia Camptodactyly Blepharophimosis Hypermetropia Deeply set eye Microcornea Macrotia Narrow palpebral fissure Truncal obesity Intellectual disability, severe Thick eyebrow Visual impairment Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases


Hoarse voice Coarctation of aorta Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Long eyelashes Joint stiffness Absent septum pellucidum Severe postnatal growth retardation Small hand Specific learning disability Feeding difficulties in infancy Left ventricular hypertrophy Abnormal cardiac septum morphology Hypoplasia of penis Large earlobe Postnatal growth retardation Low-set, posteriorly rotated ears Abnormality of the pinna Gastroesophageal reflux Hypopituitarism Hypoglycemia Bicuspid aortic valve Kyphoscoliosis Cerebral cortical atrophy Thin vermilion border Secondary amenorrhea Broad foot Astigmatism Rod-cone dystrophy Anteverted nares Autism Neurological speech impairment Restrictive cardiomyopathy Edema Short nose Malar flattening Hypospadias Micropenis Polydactyly Glaucoma Cleft palate Short toe Hypertrichosis Syndactyly Renal insufficiency Thickened calvaria Failure to thrive Hypertension Delayed speech and language development High, narrow palate Hypothyroidism Pes cavus Polyhydramnios Short foot Malignant hyperthermia Low posterior hairline Abnormal heart morphology Oral cleft Proptosis Gonadal dysgenesis Abnormally low-pitched voice Broad forehead Leukemia Atresia of the external auditory canal Arnold-Chiari malformation Platyspondyly Talipes Fine hair Amblyopia Dental malocclusion Hypoplasia of the maxilla Iris coloboma Cleft lip Brachycephaly Inguinal hernia Lymphedema Headache Respiratory distress Respiratory insufficiency Frontal bossing Short finger Hypoplasia of the uterus Overlapping toe Holoprosencephaly Congenital diaphragmatic hernia Narrow forehead Infertility Synophrys Hypoplastic iliac wing Low-set ears Dental crowding Cardiomyopathy Pectus excavatum Atrial septal defect Flexion contracture Hypertonia Behavioral abnormality Cognitive impairment Fever Talipes equinovarus Pain Motor delay Long philtrum Ventriculomegaly Abnormality of the cervical spine Intellectual disability, mild Neoplasm Plagiocephaly Thin nail Thoracolumbar kyphosis Calcaneovalgus deformity Poor fine motor coordination Teratoma Hypotrichosis Galactorrhea Prominent fingertip pads Shield chest Facial asymmetry Atrial flutter Nonimmune hydrops fetalis Dilatation Dimple chin Thrombocytopenia Synovitis Schwannoma Multiple lentigines Broad philtrum Asymmetry of the thorax Optic disc hypoplasia Short fourth metatarsal Dilation of lateral ventricles Lymphangioma Hypertrophic cardiomyopathy Broad face Hypoplastic aortic arch Hydrocele testis Amegakaryocytic thrombocytopenia Drusen Neuroblastoma Bruising susceptibility Flared humeral metaphysis Abdominal pain Sacrococcygeal teratoma Lumbar kyphosis Flared femoral metaphysis Limited knee extension Wide intermamillary distance Ventricular hypertrophy Dysharmonic bone age Webbed neck Clumsiness Myelodysplasia Patent foramen ovale Failure to thrive in infancy Elevated alkaline phosphatase Pterygium Poor suck Deep-set nails Abnormal bleeding Splenomegaly Cystic hygroma Arnold-Chiari type I malformation Congestive heart failure Abnormality of blood and blood-forming tissues Azoospermia Abnormality of the vertebral column Male infertility Vomiting Neurofibromas Abdominal distention Vertebral wedging Triangular face Abnormality of color vision Leukocytosis Abnormality of the coagulation cascade Horizontal eyebrow Cubitus valgus Posteriorly rotated ears Radioulnar synostosis Superior pectus carinatum EMG abnormality High hypermetropia Vertebral fusion Pericardial effusion Blurred vision 2-3 toe syndactyly Skeletal muscle hypertrophy Oral-pharyngeal dysphagia Stridor Cone-shaped epiphysis Abnormality of the voice Precocious puberty Short long bone Aortic valve stenosis Keratoconus Abnormality of epiphysis morphology Thickened skin Abnormality of the metaphysis Abnormal lung morphology Short palpebral fissure Abnormality of the ribs Abnormality of the cardiovascular system Limitation of joint mobility Bifid uvula Progressive cerebellar ataxia Short palm Small for gestational age Prominent nasal bridge Abnormal joint morphology Arthropathy Cough Abnormal lip morphology Gingival cleft Enlarged vertebral pedicles Laryngotracheal stenosis Generalized muscle hypertrophy Abnormality of the pubic bone Constrictive pericarditis Pear-shaped nose Large iliac wings Esophageal stenosis Pseudopapilledema Stiff skin Abnormality of the penis Unilateral cleft lip Pericarditis Abnormality of the menstrual cycle Epispadias Femoral hernia Peptic ulcer Constrictive median neuropathy Craniofacial hyperostosis Broad ribs Tracheal stenosis Chronic constipation Oligomenorrhea Irregular vertebral endplates Submucous cleft hard palate Wheezing Short philtrum Microtia Reduced factor XII activity Toe syndactyly Generalized hirsutism Bilateral single transverse palmar creases Low anterior hairline Hip dysplasia Intestinal malrotation Premature birth Vesicoureteral reflux Delayed eruption of teeth Sleep disturbance Highly arched eyebrow Downturned corners of mouth Micromelia Hip dislocation Widely spaced teeth Attention deficit hyperactivity disorder Anxiety Clinodactyly of the 5th finger Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Multicystic kidney dysplasia Pyloric stenosis Scarring Curly eyelashes Autistic behavior Respiratory tract infection Thin upper lip vermilion Narrow mouth Respiratory failure Hyperactivity Severe short stature Recurrent respiratory infections Recurrent infections Cerebellar atrophy Prenatal movement abnormality Phthisis bulbi Increased nuchal translucency Down-sloping shoulders Volvulus Abnormality of the uterus Short 1st metacarpal Abnormality of the ulna Hypoplastic labia majora Blepharitis Oligodactyly Hypoplastic nipples Cutis marmorata Aplasia/Hypoplasia of the cerebellum Obsessive-compulsive behavior Proximal placement of thumb Elbow dislocation Diastasis recti Hypotension Prolactin excess Split hand Decreased serum estradiol Motor axonal neuropathy Genu recurvatum Myoglobinuria Axonal loss Rhabdomyolysis Axonal degeneration Decreased motor nerve conduction velocity Postural tremor CNS hypomyelination Intention tremor Motor polyneuropathy Interphalangeal joint contracture of finger Peripheral demyelination Chorea Polyneuropathy Sensory neuropathy Paresthesia Dysmetria Congenital cataract Abnormal pyramidal sign Camptodactyly of finger Myalgia Abnormality of peripheral nerve conduction Recurrent myoglobinuria Osteoporosis Postaxial polydactyly Clubbing Anosmia Situs inversus totalis Hepatic fibrosis Aganglionic megacolon Abnormality of the genital system Postaxial hand polydactyly Pigmentary retinopathy Asthma Hypodontia Retinal dystrophy Hirsutism Malar prominence Stage 5 chronic kidney disease Retinal degeneration Paraplegia Retinopathy Coloboma Abnormality of the kidney Reduced visual acuity Diabetes mellitus Peripheral hypomyelination Acute rhabdomyolysis Upper limb postural tremor Proximal muscle weakness Babinski sign Macular dystrophy Abnormal lacrimal duct morphology Torticollis Acanthosis nigricans Conjunctivitis Narrow palate Convex nasal ridge Craniosynostosis High forehead Cerebellar hypoplasia Hydrocephalus Optic atrophy Abnormality of the breast Increased intracranial pressure Premature atrial contractions Female infertility Unilateral ptosis Epicanthus inversus Congenital ptosis Increased circulating gonadotropin level Cupped ear Premature ovarian insufficiency Abnormality of the hair Telecanthus Wide nasal bridge Sleep apnea Hypopigmented skin patches Cerebral atrophy Sagittal craniosynostosis Tremor Muscle weakness Cartilaginous trachea Narrow internal auditory canal Multiple suture craniosynostosis Dysgerminoma Abnormal sacrum morphology Abnormality of the nasopharynx Short upper lip Craniofacial dysostosis Lambdoidal craniosynostosis Cloverleaf skull Trigonocephaly Gonadoblastoma Choanal stenosis Coronal craniosynostosis Abnormality of the skull Turricephaly Papilledema Shallow orbits Scaphocephaly Syringomyelia Keratitis Melanocytic nevus Tricuspid regurgitation Nephronophthisis Acute lymphoblastic leukemia Septo-optic dysplasia Spasticity Ectopic anterior pituitary gland Anterior pituitary agenesis Osteoporosis of vertebrae Abnormality of secondary sexual hair Decreased cervical spine mobility Moon facies Abnormal prolactin level Pituitary dwarfism Aplasia/Hypoplasia of the breasts Ectopic posterior pituitary Hyperhidrosis Decreased circulating ACTH level Median cleft lip and palate Anterior pituitary hypoplasia Absence of secondary sex characteristics Pituitary hypothyroidism Concave nasal ridge Short attention span Aspiration pneumonia Prolonged neonatal jaundice Abnormality of digit Hypoplastic left heart Dysarthria Retrognathia Adrenal insufficiency Coxa valga Inverted nipples Limited elbow extension Bilateral talipes equinovarus Large for gestational age Metatarsus adductus Flat occiput Large hands Back pain Slurred speech Cutis laxa Accelerated skeletal maturation Pointed chin Umbilical hernia Short ribs Joint contracture of the hand Tall stature Broad thumb Pachygyria Overgrowth Nail dysplasia Lymphoma Round face Joint laxity Neonatal hypotonia Delayed cranial suture closure Optic nerve hypoplasia Foot polydactyly Skeletal muscle atrophy Scrotal hypoplasia Gynecomastia Hyperpigmentation of the skin Heterotopia Full cheeks Tapered finger Joint hyperflexibility Intellectual disability, moderate EEG abnormality Coarse facial features Septate vagina Hammertoe Hydrometrocolpos Nephrogenic diabetes insipidus Biliary tract abnormality Microphallus Tapetoretinal degeneration Menstrual irregularities Vaginal atresia Abnormality of the ovary Gait imbalance Undetectable electroretinogram Poor coordination Prominent supraorbital ridges Abnormality of neuronal migration Aspiration Scheuermann-like vertebral changes Depressed nasal ridge Growth hormone deficiency Macroglossia Ascites Severe global developmental delay Abnormality of the eye Jaundice Osteopenia Agenesis of corpus callosum Pneumonia Fatigue Hypoplasia of the prostate Abnormality of the hip bone Widely spaced toes Cervical spinal canal stenosis Shortening of all middle phalanges of the fingers Moderately short stature Diabetic ketoacidosis Long ear Camptodactyly of toe Shortening of all distal phalanges of the fingers Short 5th finger Ketoacidosis Broad neck Hypoplasia of eyelid



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Hepatosplenomegaly, related diseases and genetic alterations Autoimmunity and Bifid uvula, related diseases and genetic alterations Brachydactyly and Short nose, related diseases and genetic alterations Cognitive impairment and Muscular dystrophy, related diseases and genetic alterations

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