Microphthalmia, and Single transverse palmar crease

Diseases related with Microphthalmia and Single transverse palmar crease

In the following list you will find some of the most common rare diseases related to Microphthalmia and Single transverse palmar crease that can help you solving undiagnosed cases.


Top matches:

High match CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2


Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2

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

High match MONOSOMY 13Q14


Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match ADAMS-OLIVER SYNDROME 2; AOS2


Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

High match 3Q29 MICRODELETION SYNDROME


3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

High match ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME


Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.

ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME Is also known as aeg syndrome|anophthalmia, clinical, with associated anomalies|anophthalmia-esophageal-genital syndrome|microphthalmia and esophageal atresia syndrome|mcops3|syndromic microphthalmia type 3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

High match MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES


Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.

MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES Is also known as microphthalmia and pituitary anomalies|microphthalmia with brain and digit developmental anomalies|syndromic microphthalmia type 6|anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia|bakrania-ragge

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES

High match MICROPHTHALMIA WITH LIMB ANOMALIES


Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.

MICROPHTHALMIA WITH LIMB ANOMALIES Is also known as waardenburg anophthalmia syndrome|waardenburg syndrome, type ivc|waardenburg syndrome with hirschsprung disease, type 4c|oas|anophthalmia-syndactyly syndrome|ophthalmoacromelic syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES

High match PALLISTER-HALL SYNDROME; PHS


Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations (Biesecker et al., 1996).

PALLISTER-HALL SYNDROME; PHS Is also known as hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about PALLISTER-HALL SYNDROME; PHS

High match 15Q24 MICRODELETION SYNDROME


15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

15Q24 MICRODELETION SYNDROME Is also known as monosomy 15q24|del(15)(q24)

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 15Q24 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Microphthalmia and Single transverse palmar crease

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Microphthalmia and Single transverse palmar crease. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Posteriorly rotated ears

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Micropenis Toe syndactyly Seizures Abnormal facial shape Brachydactyly Short nose Frontal bossing Depressed nasal bridge Short stature Cleft palate Generalized hypotonia Cataract Hypospadias Intrauterine growth retardation Protruding ear Ventriculomegaly Sandal gap Hip dislocation Iris coloboma Postaxial foot polydactyly Clinodactyly of the 5th finger Hypoplasia of the corpus callosum Epicanthus Delayed speech and language development Downslanted palpebral fissures Muscular hypotonia Abnormal heart morphology Ventricular septal defect Wide nasal bridge Intellectual disability, severe Microretrognathia Long philtrum Abnormality of cardiovascular system morphology Hernia Clinodactyly Failure to thrive High forehead Hypogonadism Patent ductus arteriosus Macrotia Facial asymmetry Agenesis of corpus callosum Joint hyperflexibility Dilatation Sensorineural hearing impairment Macrocephaly Muscular hypotonia of the trunk Growth hormone deficiency Holoprosencephaly Abnormality of the genital system Thin vermilion border Finger syndactyly Prominent nasal bridge Coloboma Hydrocephalus Small nail Hypertelorism Syndactyly Abnormal vertebral morphology Horseshoe kidney Hemivertebrae Anophthalmia Cleft upper lip Deeply set eye Postnatal growth retardation Polydactyly Postaxial hand polydactyly Congenital cataract

Rare Symptoms - Less than 30% cases


Postaxial polydactyly Rib fusion Anterior pituitary hypoplasia Periventricular leukomalacia Hypothalamic hamartoma Anteverted nares Nystagmus Renal hypoplasia Hypertonia Retrognathia Optic atrophy Nail dysplasia Prominent forehead Talipes equinovarus Cerebellar hypoplasia Depressivity Bifid uvula Scrotal hypoplasia Sclerocornea Small for gestational age Nasal speech Narrow face Microphallus Midface retrusion Camptodactyly of finger Tapered finger Long face Interphalangeal joint contracture of finger Attention deficit hyperactivity disorder Behavioral abnormality Respiratory tract infection Intellectual disability, moderate Joint laxity Aggressive behavior Chorioretinal coloboma Autism Hyperactivity Inguinal hernia Strabismus Flexion contracture Polymicrogyria Cleft lip Bulbous nose Deep philtrum Tibial bowing Oligodactyly Thin upper lip vermilion Fibular hypoplasia Bilateral single transverse palmar creases Broad forehead Hydronephrosis Open mouth Hand oligodactyly Blepharophimosis Wide anterior fontanel Everted lower lip vermilion Microglossia Camptodactyly of 2nd-5th fingers Ptosis Proximal placement of thumb Cognitive impairment Low-set, posteriorly rotated ears Foot oligodactyly Adrenal hypoplasia Flared nostrils Patent foramen ovale Short long bone Precocious puberty Abnormality of the metacarpal bones Bilateral cryptorchidism Elbow dislocation Hypopigmented skin patches Atresia of the external auditory canal Anosmia Hydroureter Adrenal insufficiency Ectopic kidney Medial flaring of the eyebrow Mesomelia Broad thumb Aganglionic megacolon Gastrointestinal atresia External genital hypoplasia Natal tooth Hamartoma Hypopituitarism Cutaneous syndactyly Decreased testicular size Renal dysplasia Short tibia White eyebrow White eyelashes Macrodontia Arrhinencephaly Intestinal pseudo-obstruction Short 4th metacarpal Venous insufficiency Hypoplasia of the premaxilla Blue irides Heterochromia iridis Large earlobe Abnormality of the lower limb White hair Abnormality of the upper limb Abnormality of the thumb Synostosis of joints Lacrimal gland hypoplasia Choanal atresia Anal atresia Premature graying of hair Limb undergrowth White forelock Renal agenesis Renal cyst Tarsal synostosis Microtia True anophthalmia Abnormality of the kidney Dyspnea Respiratory failure Synostosis of carpal bones Feeding difficulties Abnormal eyebrow morphology Neoplasm Abnormal lung lobation Bifid epiglottis Upper airway obstruction Congenital diaphragmatic hernia Pointed chin Hoarse voice Sparse and thin eyebrow Cafe-au-lait spot Short thumb Fine hair Thick lower lip vermilion Underdeveloped nasal alae Abnormality of the outer ear Delayed myelination Sleep disturbance Highly arched eyebrow Small hand High, narrow palate Abnormal form of the vertebral bodies Wide nose Widely spaced teeth Abnormality of the voice Arachnodactyly Toe clinodactyly Wide nasal base Abnormality of nervous system morphology Intestinal atresia Unilateral cryptorchidism Thick nasal alae Deep plantar creases Overlapping fingers Anisocoria Abnormality of the thorax Thick upper lip vermilion High anterior hairline Insomnia Abnormality of digit Slender finger Mild short stature Radial deviation of finger Cupped ear Short palm Smooth philtrum Decreased circulating cortisol level Mesoaxial polydactyly Primitive neuroectodermal tumor Thick hair Distal urethral duplication Y-shaped metacarpals Mesoaxial hand polydactyly Conspicuously happy disposition Thyroid dysgenesis Laryngeal cleft Preductal coarctation of the aorta Radial head subluxation Hydrometrocolpos Hypoplasia of the epiglottis Mandibular aplasia Bilateral choanal atresia Vaginal atresia Panhypopituitarism Long palm Distal shortening of limbs Hypermetropia Pes cavus Severe global developmental delay Autistic behavior Developmental regression Feeding difficulties in infancy Polyhydramnios Narrow mouth Upslanted palpebral fissure Obesity Large fleshy ears Recurrent infections Immunodeficiency Intellectual disability, mild Scoliosis Dysplastic corpus callosum Diverticulosis of trachea Mesoaxial foot polydactyly Midline facial capillary hemangioma Bowing of the long bones Specific learning disability Hypoplasia of the maxilla Low anterior hairline Aplasia cutis congenita Short finger Cutis marmorata Dermal atrophy Cerebral palsy Narrow palpebral fissure Lymphedema Aplasia cutis congenita of scalp Blue sclerae Oligohydramnios Wide intermamillary distance Gliosis Short foot Retinal detachment Corpus callosum atrophy Retinal fold Abnormality of the nervous system Abnormality of the dentition Pectus carinatum Short philtrum Anxiety Gastroesophageal reflux Gait ataxia Pectus excavatum Gait disturbance Retrocerebellar cyst Hypertension Ataxia Retinal nonattachment Adactyly Cutis marmorata telangiectatica congenita High-pitched cry Short distal phalanx of finger Alopecia Oral cleft Short palpebral fissure Fused fourth and fifth metacarpals Metacarpal synostosis Abnormal renal morphology Short femur Abnormality of the hair Split hand Abnormality of the cardiovascular system Wide mouth Large beaked nose Rocker bottom foot Cutaneous photosensitivity Convex nasal ridge Sparse hair Kyphoscoliosis Short neck Dolichocephaly Cerebral atrophy Abnormality of the gastrointestinal tract Visual impairment Spasticity Leukocoria Anteverted ears Retinoblastoma Thickened helices Aplasia/Hypoplasia of the thumb Thick eyebrow Absent septum pellucidum Supernumerary nipple Trigonocephaly Abnormal dermatoglyphics Finger clinodactyly Hypotelorism Webbed neck Pulmonic stenosis Abnormality of skin pigmentation Hypopigmentation of the skin Craniosynostosis Aplasia/Hypoplasia of the corpus callosum Plagiocephaly Severe muscular hypotonia High myopia Microcornea Retinal dystrophy Hypothyroidism Preaxial hand polydactyly Cerebral cortical atrophy Brachycephaly Absent speech Malar flattening Blindness Myopia Bifid scrotum Short middle phalanx of finger Cervical hemivertebrae Inferior vermis hypoplasia Aplasia of the optic tract Small sella turcica Flexion contracture of thumb Small scrotum Uplifted earlobe Orbital cyst Female hypogonadism Broad palm Abnormality of the cervical spine Lambdoidal craniosynostosis Anterior hypopituitarism Abnormality of the hypothalamus-pituitary axis Delayed CNS myelination Foot polydactyly Proximal esophageal atresia Glandular hypospadias Prominent nose Bipolar affective disorder Visual loss Motor delay Six lumbar vertebrae Subvalvular aortic stenosis Broad face Shallow orbits Aspiration Delayed eruption of teeth Aortic valve stenosis Anorexia Stereotypy Dental crowding Pulmonary arterial hypertension Psychosis Facial palsy Hypoplasia of penis Multiple impacted teeth Missing ribs Absent gallbladder Vertebral hypoplasia Supernumerary ribs Butterfly vertebrae Gonadotropin deficiency 11 pairs of ribs Esophageal atresia Spastic tetraplegia Increased number of teeth Vertebral fusion Spastic diplegia Tracheoesophageal fistula Optic nerve hypoplasia Hypogonadotrophic hypogonadism Heterotopia Abnormality of the proximal phalanx of the thumb



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Neutropenia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more