Brachydactyly, and Microphthalmia

Diseases related with Brachydactyly and Microphthalmia

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


Top matches:

Medium match HOLOPROSENCEPHALY 7; HPE7


Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Medium match FRONTORHINY


Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.

FRONTORHINY Is also known as frontonasal dysplasia type 1|isolated median cleft face syndrome|alx3-related frontonasal dysplasia

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about FRONTORHINY

Medium match ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME


Acroosteolysis-keloid-like lesions-premature aging syndrome is a rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.

ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME Is also known as premature aging syndrome, penttinen type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME

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Other less relevant matches:

Medium match SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME


Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.

SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME Is also known as smd-crd

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE


Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (summary by de Winter et al., 2000).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE Is also known as face

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE

Medium match FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME


Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.

FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME Is also known as alx1-related frontonasal dysplasia|frontonasal dysplasia type 3

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME

Medium match OSTEOCRANIOSTENOSIS


Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

OSTEOCRANIOSTENOSIS Is also known as habrodysplasia|osteocraniostenosis|gracile bone dysplasia|skeletal dysplasia, lethal, with gracile bones|osteocraniosplenic syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOCRANIOSTENOSIS

Medium match PELVISCAPULAR DYSPLASIA


Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.

PELVISCAPULAR DYSPLASIA Is also known as craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature|familial pelvis-scapular dysplasia|cousin syndrome|pelviscapular dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PELVISCAPULAR DYSPLASIA

Medium 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

Medium 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

Top 5 symptoms//phenotypes associated to Brachydactyly and Microphthalmia

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Microphthalmia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Short stature Growth delay Micrognathia Cleft palate Hypotelorism Abnormal facial shape Hearing impairment Hydrocephalus Scoliosis Macrocephaly Wide nasal bridge Cataract Ptosis Agenesis of corpus callosum Hypoplasia of the corpus callosum Low-set ears Posteriorly rotated ears Hypoplasia of the maxilla Seizures Frontal bossing Finger clinodactyly Abnormal heart morphology Short nose Iris coloboma Generalized hypotonia Protruding ear Severe short stature Intrauterine growth retardation

Rare Symptoms - Less than 30% cases


Delayed skeletal maturation Osteopenia Syndactyly Single transverse palmar crease Wide anterior fontanel Brachycephaly Abnormality of cardiovascular system morphology Small for gestational age Flexion contracture Rhizomelia Alopecia Flared metaphysis Dermal atrophy Prominent nasal bridge Hydronephrosis Limb undergrowth Short finger Narrow palpebral fissure Coloboma Hip dislocation Visual impairment Failure to thrive Bowing of the long bones Deeply set eye Cryptorchidism Short neck Delayed speech and language development Slender long bone Muscular hypotonia of the trunk Growth abnormality Bulbous nose Recurrent fractures Thin vermilion border Clinodactyly of the 5th finger Lipoma of corpus callosum Cranium bifidum occultum Depressed nasal bridge Clinodactyly Oligohydramnios Dental malocclusion Broad forehead Micropenis Polymicrogyria Low-set, posteriorly rotated ears Camptodactyly of finger Cleft lip Thin upper lip vermilion Preauricular skin tag Redundant skin Holoprosencephaly Widow's peak Flat occiput Midface retrusion Anteverted nares High palate Pneumonia Blepharophimosis Abnormality of the pinna Camptodactyly Hypospadias Toe syndactyly Elbow flexion contracture Microcornea Low posterior hairline Short palpebral fissure Joint contracture of the hand Congenital hip dislocation 2-3 toe syndactyly Mesomelia Dislocated radial head Bell-shaped thorax Motor delay Microglossia Prominent forehead Short philtrum Skeletal dysplasia Decreased fetal movement Radial bowing Asplenia Severe intrauterine growth retardation Aniridia Short hallux Thin ribs Hypokinesia Hyperostosis Decreased skull ossification Disproportionate short-limb short stature Hypocalcemia Cloverleaf skull Cardiac arrest Progressive microcephaly Lethal skeletal dysplasia Coarse facial features Ambiguous genitalia Abdominal distention Ankyloglossia Aplasia/hypoplasia of the extremities Thin clavicles Ascites Pulmonary hypoplasia Overtubulated long bones Hypoplastic spleen Micromelia Abnormality of the skeletal system Hypoplastic scapulae Talipes equinovarus Craniosynostosis Stenosis of the external auditory canal Abnormality of the joint spaces of the elbow Hypoplastic iliac wing Ventriculomegaly Congenital cataract Abnormality of the nervous system Cerebellar hypoplasia Depressivity Dilatation Cerebral atrophy Hypertonia Optic atrophy Retinal detachment Spasticity Leukocoria Anteverted ears Retinoblastoma Thickened helices Abnormality of the gastrointestinal tract Aplasia/Hypoplasia of the thumb Short distal phalanx of finger Short foot Supernumerary nipple Corpus callosum atrophy Adactyly Cutis marmorata telangiectatica congenita High-pitched cry Retrocerebellar cyst Retinal fold Aplasia cutis congenita of scalp Periventricular leukomalacia Aplasia cutis congenita Gliosis Cutis marmorata Cerebral palsy Low anterior hairline Lymphedema Blue sclerae Small nail Wide intermamillary distance Absent septum pellucidum Trigonocephaly Short femur Hypoplastic ischia Mesomelic leg shortening Microtia, first degree Alveolar ridge overgrowth Facial hirsutism 4-5 toe syndactyly Hypoplastic pubic bone Ambiguous genitalia, female Long clavicles Prominent protruding coccyx Humeroradial synostosis Wrist flexion contracture Hydranencephaly Fibular aplasia Ambiguous genitalia, male Redundant neck skin Hypoplastic ilia Abnormality of the skull base Absent proximal finger flexion creases Patent foramen ovale Finger syndactyly Deep philtrum Abnormal dermatoglyphics Open mouth Webbed neck Everted lower lip vermilion Thick eyebrow Dolichocephaly Wide mouth Anterior rounding of vertebral bodies High forehead Hernia Long philtrum Intellectual disability, severe Ventricular septal defect Cognitive impairment Muscular hypotonia Pectoral muscle hypoplasia/aplasia Aplasia/Hypoplasia of the frontal sinuses Neutropenia Hypoplasia of the frontal bone Delayed eruption of teeth Pterygium Cachexia Wormian bones Thin skin Fine hair Abnormality of the skin Hypermetropia Long nose Scarring Sparse hair Retrognathia Kyphoscoliosis Proptosis Hyperkeratosis Osteoporosis Delayed cranial suture closure Lipoatrophy Respiratory insufficiency Myopia Platyspondyly Nyctalopia Joint stiffness Postnatal growth retardation Hyperlordosis Photophobia Visual loss Nystagmus Prematurely aged appearance Thin calvarium Narrow philtrum Increased thyroid-stimulating hormone level Osteolytic defects of the phalanges of the hand Shallow orbits Narrow nose Striae distensae Edema Sensorineural hearing impairment Short palm Median cleft lip Bilateral microphthalmos Panhypopituitarism Broad face Bilateral cleft lip and palate Depressed nasal tip Bilateral cleft lip Partial agenesis of the corpus callosum Single median maxillary incisor Omphalocele Prominent nose Highly arched eyebrow Oral cleft Smooth philtrum Macrotia Upslanted palpebral fissure Median cleft lip and palate Midline defect of the nose Basal encephalocele Aplasia/Hypoplasia of the corpus callosum Midline nasal groove Congenital conductive hearing impairment Dermoid cyst Hypoplastic frontal sinuses Bifid tongue Hypopituitarism Diabetes insipidus Encephalocele Parietal bossing Lumbar hyperlordosis Flat nasal alae Fusion of the left and right thalami Absent nasal septal cartilage Hypoplasia of the premaxilla Alobar holoprosencephaly Semilobar holoprosencephaly Astigmatism Retinal dystrophy Prominent glabella Hypergonadotropic hypogonadism Reticulocytopenia Absent radius Absent thumb Ectopic kidney Horseshoe kidney Bone marrow hypocellularity Cafe-au-lait spot Complete duplication of thumb phalanx Short thumb Pancytopenia Renal agenesis Bruising susceptibility Abnormality of skin pigmentation Leukemia Thrombocytopenia Duplicated collecting system Chromosomal breakage induced by crosslinking agents Neoplasm Sparse eyebrow Caudal appendage Upper eyelid coloboma Wide nasal base Bifid nose Eyelid coloboma Facial cleft Absent eyebrow Sparse eyelashes Prolonged G2 phase of cell cycle Recurrent pneumonia Tetralogy of Fallot Underdeveloped nasal alae Conductive hearing impairment Intellectual disability, mild Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Anemia Hypoplastic inferior ilia Short metacarpal Bowing of the legs Macular atrophy Disproportionate short stature High hypermetropia Tibial bowing Femoral bowing Abnormality of color vision Metaphyseal irregularity Iris hypopigmentation Metaphyseal widening Cone/cone-rod dystrophy Coxa vara Recurrent otitis media Abnormality of the ribs Progressive visual loss Waddling gait Thoracic scoliosis Peripheral visual field loss Tibial torsion Limited elbow movement Large central visual field defect Cupped ribs Severe platyspondyly Retinal thinning Narrow greater sacrosciatic notches Decreased hip abduction Abnormality of macular pigmentation Cone dysfunction syndrome Retinal atrophy Metaphyseal cupping Spondylometaphyseal dysplasia Enlarged joints Optic nerve coloboma Ectopia pupillae Ovoid vertebral bodies Beaking of vertebral bodies Retinal 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If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Wide nasal bridge and Pancytopenia, related diseases and genetic alterations Wide nasal bridge and Short nose, related diseases and genetic alterations

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