Cleft palate, and Limb undergrowth

Diseases related with Cleft palate and Limb undergrowth

In the following list you will find some of the most common rare diseases related to Cleft palate and Limb undergrowth that can help you solving undiagnosed cases.


Top matches:

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA


Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

Low match RAPADILINO SYNDROME


RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Cleft palate
  • High palate


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAPADILINO SYNDROME

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Other less relevant matches:

Low match WEISSENBACHER- ZWEYMULLER SYNDROME


Weissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts.

WEISSENBACHER- ZWEYMULLER SYNDROME Is also known as heterozygous otospondylomegaepiphyseal dysplasia|heterozygous osmed|pierre robin sequence-fetal chondrodysplasia syndrome|pierre robin syndrome-fetal chondrodysplasia syndrome

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia
  • Cleft palate
  • Delayed speech and language development


SOURCES: ORPHANET MENDELIAN

More info about WEISSENBACHER- ZWEYMULLER SYNDROME

Low match DIAMOND-BLACKFAN ANEMIA 11; DBA11


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Anemia
  • Neutropenia


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 11; DBA11

Low match HYDROLETHALUS


Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Low-set ears
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about HYDROLETHALUS

Low match DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME


Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Low match ATELOSTEOGENESIS TYPE III


Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

ATELOSTEOGENESIS TYPE III Is also known as aoiii|ao3|atelosteogenesis type 3

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS TYPE III

Low match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Low match DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE


Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.

DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE Is also known as dyssegmental dwarfism, silverman-handmaker type|anisospondylic camptomicromelic dwarfism, silverman-handmaker type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Wide nasal bridge
  • Talipes equinovarus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE

Top 5 symptoms//phenotypes associated to Cleft palate and Limb undergrowth

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Micromelia Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Limb undergrowth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Rhizomelia Narrow chest Hearing impairment Scoliosis Hypertelorism Talipes equinovarus Cryptorchidism

Rare Symptoms - Less than 30% cases


Low-set ears Glossoptosis Premature birth Cleft upper lip Absent thumb Metaphyseal widening Short femur Hypoplastic scapulae Hydrocephalus Deeply set eye Hypoplasia of the radius Abnormal facial shape Disproportionate short-limb short stature Agenesis of corpus callosum Sandal gap Proptosis Sensorineural hearing impairment Frontal bossing Brachydactyly Abnormality of the skeletal system Cataract Myopia Short neck Kyphosis Wide nasal bridge Skeletal dysplasia Severe short stature Flat face Cleft lip Depressed nasal bridge Oral cleft Elbow dislocation Cervical kyphosis Hitchhiker thumb Flat acetabular roof Radial bowing Hypoplasia of the maxilla Prominent occiput Tibial bowing Knee dislocation Neurodegeneration Externally rotated hips Achalasia Bulbar signs Mild global developmental delay Generalized dystonia Macroglossia Cervical segmentation defect Small for gestational age Mental deterioration Kyphoscoliosis High forehead Immunodeficiency Intellectual disability, mild Dystonia Blindness Horizontal sacrum Aplasia/Hypoplasia of the corpus callosum Widened distal phalanges Blue sclerae Inguinal hernia Posteriorly rotated ears Narrow mouth Umbilical hernia Joint stiffness Pulmonary hypoplasia Overgrowth Depressed nasal ridge Respiratory insufficiency Abnormality of the metaphysis Bowing of the long bones Short long bone Abnormality of pelvic girdle bone morphology Thoracic hypoplasia Calvarial skull defect Abnormality of the abdominal wall Neonatal short-limb short stature Atrial septal defect Ulnar deviation of the hand or of fingers of the hand Tombstone-shaped proximal phalanges Wide intermamillary distance Ventriculomegaly Syndactyly Hypospadias Polydactyly Micropenis Abnormality of the pinna Postaxial polydactyly Ambiguous genitalia Microphallus Holoprosencephaly Global developmental delay Scrotal hypoplasia Adrenal hypoplasia Depressed nasal tip Barrel-shaped chest Shield chest Ulnar deviation of the hand Dysphagia Retrognathia Intellectual disability Patellar hypoplasia Short chin Joint dislocation Narrow palpebral fissure Aplasia/Hypoplasia of the radius Absent radius Patellar aplasia Aplasia/Hypoplasia of the patella Long face Mottled pigmentation Slender nose Stiff interphalangeal joints Muscular hypotonia Delayed speech and language development Hyperactivity Conductive hearing impairment High, narrow palate Blepharophimosis Attention deficit hyperactivity disorder Osteoarthritis Nystagmus Glaucoma Hyperlordosis Broad forehead Platyspondyly Retinal detachment Limitation of joint mobility Abnormality of epiphysis morphology Diarrhea Coxa vara Short thorax High myopia Femoral bowing Upper airway obstruction Dumbbell-shaped long bone High palate Muscular hypotonia of the trunk Delayed gross motor development Gingival cleft Absent septum pellucidum Abnormality of cardiovascular system morphology Polyhydramnios Low-set, posteriorly rotated ears Bifid uvula Postaxial hand polydactyly Laryngomalacia Anophthalmia Submucous cleft hard palate Forearm reduction defects Anencephaly Abnormality of the respiratory system Arrhinencephaly Unilateral cleft lip Abnormality of the sense of smell Abnormality of the fallopian tube Tracheal atresia Microphthalmia Reticulocytopenia Coronal cleft vertebrae Bone marrow hypocellularity Abnormality of the mandible Submucous cleft soft palate Mild neurosensory hearing impairment Growth delay Anemia Neutropenia Renal agenesis Bicuspid aortic valve Anemia of inadequate production Atresia of the external auditory canal Radioulnar synostosis Hypoplasia of the ulna Macrocytic anemia Stenosis of the external auditory canal Abnormal eyelid morphology Increased mean corpuscular volume Anisospondyly



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Esotropia, related diseases and genetic alterations Skeletal muscle atrophy and Narrow chest, related diseases and genetic alterations Cognitive impairment and Hernia, related diseases and genetic alterations Nystagmus and Thrombocytopenia, related diseases and genetic alterations Anemia and Hypopigmentation of the skin, related diseases and genetic alterations Muscular hypotonia and Fever, related diseases and genetic alterations

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