Failure to thrive, and High, narrow palate

Diseases related with Failure to thrive and High, narrow palate

In the following list you will find some of the most common rare diseases related to Failure to thrive and High, narrow palate that can help you solving undiagnosed cases.

Top matches:

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q TERMINAL DELETION SYNDROME

Other less relevant matches:

Keppen-Lubinsky syndrome is a very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by Masotti et al., 2015).

KEPPEN-LUBINSKY SYNDROME Is also known as generalized lipodystrophy-progeroid features-severe intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about KEPPEN-LUBINSKY SYNDROME

Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

High match LEPRECHAUNISM

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

Multiple endocrine neoplasia type IIB (MEN2B) is an autosomal dominant hamartoneoplastic syndrome characterized by aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuromas, and thickened corneal nerves. Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus. Other more variable features include skeletal anomalies and gastrointestinal problems (review by Morrison and Nevin, 1996).For a discussion of genetic heterogeneity of multiple endocrine neoplasia (MEN), see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B Is also known as men iib|multiple endocrine neoplasia, type iii, formerly|wagenmann-froboese syndrome|men3, formerly|neuromata, mucosal, with endocrine tumors

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B

Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.

CARDIOSPONDYLOCARPOFACIAL SYNDROME Is also known as forney-robinson-pascoe syndrome|mitral regurgitation-deafness-skeletal anomalies syndrome|forney syndrome|mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CARDIOSPONDYLOCARPOFACIAL SYNDROME

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

VAN DEN ENDE-GUPTA SYNDROME Is also known as marden-walker-like syndrome|vdegs|blepharophimosis, arachnodactyly, and congenital contractures|marden-walker-like syndrome without psychomotor retardation

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about VAN DEN ENDE-GUPTA SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and High, narrow palate

Symptoms // Phenotype % cases
Abnormal facial shape Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and High, narrow palate. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Microcephaly Short stature Postnatal growth retardation Wide mouth High palate Proptosis Seizures Generalized hypotonia Micrognathia Narrow nasal bridge Low anterior hairline Cutis laxa Small for gestational age Coarse facial features Feeding difficulties Arachnodactyly Short palpebral fissure Intrauterine growth retardation Intellectual disability, severe Lipodystrophy Strabismus Pectus excavatum Joint laxity Thick vermilion border Hypertrichosis Blepharophimosis Thin vermilion border Telecanthus Thick lower lip vermilion Anteverted nares Severe short stature Delayed skeletal maturation Hirsutism Triangular face Underdeveloped nasal alae

Rare Symptoms - Less than 30% cases

Flexion contracture Hernia Macrotia Depressed nasal bridge Dyspnea Everted lower lip vermilion Broad philtrum Freckling Gynecomastia Long foot Wide intermamillary distance Short philtrum Thick eyebrow Low-set, posteriorly rotated ears Hyperkeratosis Obesity Delayed speech and language development Severe failure to thrive Nystagmus Abnormality of the skeletal system Thick nasal alae Muscular hypotonia Progeroid facial appearance Highly arched eyebrow Gingival overgrowth Decreased testicular size Severe intrauterine growth retardation Hyperglycemia Clitoral hypertrophy Precocious puberty Hyperinsulinemia Fasting hypoglycemia Acanthosis nigricans Insulin resistance Epidermal acanthosis Specific learning disability Abdominal distention Smooth philtrum Long penis Hypoglycemia Absent eyebrow Brachycephaly Upslanted palpebral fissure Abnormality of the dentition Respiratory distress Brachydactyly Postprandial hyperglycemia Neoplasm Long philtrum Short palm Absence of subcutaneous fat Full cheeks Cone-shaped epiphysis Cryptorchidism Narrow nose Hallux valgus Microdontia Abnormality of the skin Hypospadias Eclabion Mitral valve prolapse Dry skin Short neck Macrocephaly Generalized hirsutism Mandibular prognathia Prominent forehead Gastroesophageal reflux Retrognathia Conductive hearing impairment Talipes equinovarus Craniosynostosis Wide nasal bridge Myopia Low-set ears Downslanted palpebral fissures Cleft palate Hearing impairment Reduced subcutaneous adipose tissue Lateral clavicle hook Hypoplastic scapulae Protruding tongue Proximal femoral epiphysiolysis Abnormality of the parathyroid gland Nodular goiter Elevated calcitonin Schizencephaly Ganglioneuroma Long hallux Choanal stenosis Abnormal eyebrow morphology Single umbilical artery Stridor Joint contracture of the hand Cardiac arrest Elbow flexion contracture Ganglioneuromatosis Knee flexion contracture Laryngomalacia Congenital contracture Femoral bowing Sclerocornea Prominent corneal nerve fibers Inguinal freckling Slender long bone Elevated urinary epinephrine Thin ribs Dislocated radial head Subcutaneous neurofibromas Neuroma Ulnar bowing Achalasia Colonic diverticula Pes cavus Aganglionic megacolon Hemiparesis Polyneuropathy Hyperlordosis Carcinoma Photophobia Constipation Cafe-au-lait spot Visual loss Kyphosis Diarrhea Myopathy Ptosis Pain Subcutaneous nodule Long metacarpals Medullary thyroid carcinoma Neoplasm of the endocrine system Lisch nodules Parathyroid hyperplasia Pheochromocytoma Thyroid carcinoma Multiple mucosal neuromas Camptodactyly of toe Flushing Goiter Narrow foot Distal ulnar hypoplasia Neurofibromas Disproportionate tall stature Acne Glenoid fossa hypoplasia Failure to thrive in infancy Dental crowding Posteriorly rotated ears Bowing of the long bones Curly eyelashes Short phalanx of finger Long eyelashes Broad distal phalanx of finger Excessive wrinkled skin Clubbing of toes Broad-based gait Sparse scalp hair Status epilepticus Absence seizures Eczema Short metacarpal Prominent nipples Broad nasal tip Wide nose Poor speech Synophrys Hypotrichosis Abnormality of epiphysis morphology Joint dislocation Autistic behavior Echolalia Dysphasia Aphasia Overfolded helix Short metatarsal Abnormality of the metacarpal bones Mutism Abnormality of finger Abnormal hair pattern Narrow palpebral fissure Abnormality of the testis Enlarged joints Drooling Widely spaced teeth Broad columella Sandal gap Accelerated skeletal maturation Wide nasal base Sparse hair Prominent eyelashes Ambiguous genitalia Camptodactyly Congenital sensorineural hearing impairment Hydronephrosis Horseshoe kidney Mitral regurgitation Abnormal form of the vertebral bodies Recurrent otitis media Vesicoureteral reflux Short foot Narrow mouth Protruding ear Hypoplasia of the maxilla Abnormal cardiac septum morphology Abnormality of the eye Epileptic spasms Asthma Convex nasal ridge Dandy-Walker malformation Tarsal synostosis Synostosis of carpal bones Prominent interphalangeal joints Abnormality of cardiovascular system morphology Aggressive behavior Deeply set eye Autism Osteoporosis Unilateral narrow palpebral fissure Alopecia Absent speech Prominent proximal interphalangeal joints Carpal synostosis Failure of eruption of permanent teeth Synostosis of carpals/tarsals Pseudoepiphyses Malar flattening Delayed ossification of carpal bones Fused cervical vertebrae Rib fusion Misalignment of teeth Asymmetry of the breasts Protuberant abdomen Adipose tissue loss Ectopia lentis Dural ectasia Pes valgus Hyperextensibility of the finger joints Entropion Scaphocephaly Aortic root aneurysm Aortic aneurysm Relative macrocephaly Prominent scalp veins Increased body weight Tall stature High myopia Oligohydramnios Premature birth Bruising susceptibility Arthrogryposis multiplex congenita Narrow palm Hypoplasia of the corpus callosum Pes planus Heterotopia Periventricular gray matter heterotopia Talipes calcaneovalgus Colpocephaly Prominent metopic ridge Abnormality of neuronal migration Infantile muscular hypotonia Plagiocephaly Hypsarrhythmia Intellectual disability, mild Polymicrogyria Dysmetria Hypermetropia Abnormality of the cerebral white matter Dolichocephaly Gait ataxia Cerebellar hypoplasia Clinodactyly Prominent nasal bridge Dilatation Aplasia/Hypoplasia of the ribs Abnormality of the face Ectropion Sparse eyebrow Redundant skin Atresia of the external auditory canal Dermal atrophy Hyperextensible skin Sparse and thin eyebrow Abnormality of the genital system Aplasia/Hypoplasia of the eyebrow Depressed nasal ridge Dental malocclusion Ectodermal dysplasia Delayed eruption of teeth Bulbous nose Microtia Abnormality of the pinna Rigidity Cupped ear Long nose Hydrocephalus Broad alveolar ridges Hypertension Abnormality of male external genitalia Ablepharon Frontal hirsutism Mild hearing impairment Abnormality of female external genitalia Generalized hypertrichosis Breast aplasia Aplasia/Hypoplasia of the skin Sparse or absent eyelashes Gingival fibromatosis Absent nipple Skin tags Taurodontia Inverted nipples Shawl scrotum Hypoplastic nipples Phimosis Abnormality of the cerebral cortex Elfin facies Muscle flaccidity Inguinal hernia Recurrent infections Dysphagia Skeletal muscle atrophy Cognitive impairment Onychauxis Abnormality of upper lip Chorioretinal dystrophy Umbilical hernia Diabetic ketoacidosis Abnormal lip morphology Choroideremia Thin eyebrow Advanced eruption of teeth Thick nail Abnormality of the optic nerve Ketoacidosis Recurrent respiratory infections Feeding difficulties in infancy Ovarian neoplasm Hearing abnormality Female pseudohermaphroditism Pancreatic islet-cell hyperplasia Abnormality of the abdominal wall Ovarian cyst Small face Concave nasal ridge Thickened nuchal skin fold Lipoatrophy Nail dysplasia Hypermelanotic macule Decreased muscle mass Glucose intolerance Large hands Cachexia Hepatic fibrosis Cholestasis Type II diabetes mellitus Insulin-resistant diabetes mellitus Flat occiput Spasticity Thin skin Shallow orbits Opisthotonus Mask-like facies Increased susceptibility to fractures Tented upper lip vermilion Spastic tetraparesis Recurrent pneumonia Open mouth Premature skin wrinkling Intellectual disability, profound Febrile seizures Abnormality of eye movement Severe global developmental delay Polyhydramnios Hypertonia Respiratory insufficiency Hyperreflexia Self-mutilation Abnormally large globe Narrow face Abnormality of the forehead Preauricular skin tag Sepsis Microcornea Long face Respiratory failure Optic atrophy Epicanthus Narrow nasal tip Upper airway obstruction Tented philtrum Loss of facial adipose tissue Congenital generalized lipodystrophy Generalized lipodystrophy Prominent nasal tip Narrow naris Narrow nasal ridge Dimple chin Slender metacarpals


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